commit df4bbec30a36ad0ab0af6d3588a36df3686578ff
Author: davidlagorce <david.lagorce@inserm.fr>
Date: Sun Oct 3 10:11:04 2021 +0200
OCT 2021
diff --git for en_product1.xml between September 2021 and October 2021
old mode 100755
new mode 100644
index 38c288a..6d8e781
a/​Rareb/​Rare
1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>1 <?xml·​version="1.​0"·​encoding="ISO-​8859-​1"?>
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3 ··​<Availability>·3 ··​<Availability>·
4 ····​<Licence>4 ····​<Licence>
5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>5 ······​<FullName·​lang="en">Creative·​Commons·​Attribution·​4.​0·​International</​FullName>
7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>7 ······​<LegalCode>https:​/​/​creativecommons.​org/​licenses/​by/​4.​0/​legalcode</​LegalCode>
8 ····​</​Licence>8 ····​</​Licence>
9 ··​</​Availability>9 ··​</​Availability>
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11 ····​<Disorder·​id="17601">11 ····​<Disorder·​id="17601">
12 ······​<OrphaCode>166024</​OrphaCode>12 ······​<OrphaCode>166024</​OrphaCode>
13 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=166024</​ExpertLink>13 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=166024</​ExpertLink>
669 ··············​<TextSectionType·​id="16907">669 ··············​<TextSectionType·​id="16907">
670 ················​<Name·​lang="en">Definition<​/​Name>670 ················​<Name·​lang="en">Definition<​/​Name>
671 ··············​</​TextSectionType>671 ··············​</​TextSectionType>
672 ··············​<Contents>Brachydacty​ly-​short·​stature-​retinitis·​pigmentosa·​syndrome·​is·​a·​rare,​·​genetic,​·​congenital·​limb·​malformation·​syndrome·​characterized·​by·​mild·​to·​severe·​short·​stature,​·​brachydactyly,​·​and·​retinal·​degeneration·​(usually·​retinitis·​pigmentosa)​,​·​associated·​with·​variable·​intellectual·​disability,​·​develomental·​delays,​·​and·​craniofacial·​anomalies.​</​Contents>672 ··············​<Contents>Brachydacty​ly-​short·​stature-​retinitis·​pigmentosa·​syndrome·​is·​a·​rare,​·​genetic,​·​congenital·​limb·​malformation·​syndrome·​characterized·​by·​mild·​to·​severe·​short·​stature,​·​brachydactyly,​·​and·​retinal·​degeneration·​(usually·​retinitis·​pigmentosa)​,​·​associated·​with·​variable·​intellectual·​disability,​·​developmental·​delays,​·​and·​craniofacial·​anomalies.​</​Contents>
673 ············​</​TextSection>673 ············​</​TextSection>
674 ··········​</​TextSectionList>674 ··········​</​TextSectionList>
675 ········​</​SummaryInformation>675 ········​</​SummaryInformation>
1293 ······​</​ExternalReferenceList​>1293 ······​</​ExternalReferenceList​>
1294 ······​<DisorderDisorderAsso​ciationList·​count="0">1294 ······​<DisorderDisorderAsso​ciationList·​count="0">
1295 ······​</​DisorderDisorderAssoc​iationList>1295 ······​</​DisorderDisorderAssoc​iationList>
1296 ······​<SummaryInformationLi​st·​count="1">1296 ······​<SummaryInformationLi​st·​count="0">
1297 ········<SummaryInformation·id="-​1"·lang="en">
1298 ··········<TextSectionList·count="0">
1299 ··········</​TextSectionList>
1300 ··········<TextAuto>
1301 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
1302 ··········</​TextAuto>
1303 ········</​SummaryInformation>
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1305 ····​</​Disorder>1298 ····​</​Disorder>
1306 ····​<Disorder·​id="17610">1299 ····​<Disorder·​id="17610">
1587 ··············​<TextSectionType·​id="16907">1580 ··············​<TextSectionType·​id="16907">
1588 ················​<Name·​lang="en">Definition<​/​Name>1581 ················​<Name·​lang="en">Definition<​/​Name>
1589 ··············​</​TextSectionType>1582 ··············​</​TextSectionType>
1590 ··············​<Contents>A·​subtype·​of·​type·​2·​von·​Willebrand·​disease·​characterized·​by·​a·​bleeding·​disorder·​associated·​with·​a·​decrease·​in·​the·​affinity·​of·​the·​Willebrand·​factor·​(VWF)​·​for·​platelets·​and·​the·​subendothelium·​caused·​by·​a·​deficiency·​of·​high·​molecular·​weight·​VWF·​multimers.​·​The·​disease·​manifests·​as·​mucocutaneous·​bleeding·​(menorrhagia,​·​epistaxis,​·​gastrointestinal·​hemorrhage·​etc.​)​.​</​Contents>1583 ··············​<Contents>A·​subtype·​of·​type·​2·​von·​Willebrand·​disease·​characterized·​by·​a·​bleeding·​disorder·​associated·​with·​a·​decrease·​in·​the·​affinity·​of·​the·​Willebrand·​factor·​(VWF)​·​for·​platelets·​and·​the·​subendothelium·​caused·​by·​a·​deficiency·​of·​high·​molecular·​weight·​VWF·​multimers.​·​The·​disease·​manifests·​as·​mucocutaneous·​bleeding·​(menorrhagia,​·​epistaxis,​·​gastrointestinal·​hemorrhage,​·​etc.​)​.​</​Contents>
1591 ············​</​TextSection>1584 ············​</​TextSection>
1592 ··········​</​TextSectionList>1585 ··········​</​TextSectionList>
1593 ········​</​SummaryInformation>1586 ········​</​SummaryInformation>
2130 ··············​<TextSectionType·​id="16907">2123 ··············​<TextSectionType·​id="16907">
2131 ················​<Name·​lang="en">Definition<​/​Name>2124 ················​<Name·​lang="en">Definition<​/​Name>
2132 ··············​</​TextSectionType>2125 ··············​</​TextSectionType>
2133 ··············​<Contents>A·​subtype·​of·​type·​2·​von·​Willebrand·​disease·​characterized·​by·​a·​bleeding·​disorder·​associated·​with·​increased·​affinity·​of·​the·​Willebrand·​factor·​(VWF)​·​for·​platelets·​leading·​to·​rapid·​clearance·​of·​both·​the·​platelets·​(increasing·​the·​risk·​of·​thrombocytopenia)​·​and·​VWF·​from·​the·​plasma.​·​The·​disease·​manifests·​as·​mucocutaneous·​bleeding·​(menorrhagia,​·​epistaxis,​·​gastrointestinal·​hemorrhage·​etc.​)​.​</​Contents>2126 ··············​<Contents>A·​subtype·​of·​type·​2·​von·​Willebrand·​disease·​characterized·​by·​a·​bleeding·​disorder·​associated·​with·​increased·​affinity·​of·​the·​Willebrand·​factor·​(VWF)​·​for·​platelets·​leading·​to·​rapid·​clearance·​of·​both·​the·​platelets·​(increasing·​the·​risk·​of·​thrombocytopenia)​·​and·​VWF·​from·​the·​plasma.​·​The·​disease·​manifests·​as·​mucocutaneous·​bleeding·​(menorrhagia,​·​epistaxis,​·​gastrointestinal·​hemorrhage,​·​etc.​)​.​</​Contents>
2134 ············​</​TextSection>2127 ············​</​TextSection>
2135 ··········​</​TextSectionList>2128 ··········​</​TextSectionList>
2136 ········​</​SummaryInformation>2129 ········​</​SummaryInformation>
5721 ······​</​ExternalReferenceList​>5714 ······​</​ExternalReferenceList​>
5722 ······​<DisorderDisorderAsso​ciationList·​count="0">5715 ······​<DisorderDisorderAsso​ciationList·​count="0">
5723 ······​</​DisorderDisorderAssoc​iationList>5716 ······​</​DisorderDisorderAssoc​iationList>
5724 ······​<SummaryInformationLi​st·​count="1">5717 ······​<SummaryInformationLi​st·​count="0">
5725 ········<SummaryInformation·id="-​1"·lang="en">
5726 ··········<TextSectionList·count="0">
5727 ··········</​TextSectionList>
5728 ··········<TextAuto>
5729 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
5730 ··········</​TextAuto>
5731 ········</​SummaryInformation>
5732 ······​</​SummaryInformationLis​t>5718 ······​</​SummaryInformationLis​t>
5733 ····​</​Disorder>5719 ····​</​Disorder>
5734 ····​<Disorder·​id="17642">5720 ····​<Disorder·​id="17642">
10209 ··············​<TextSectionType·​id="16907">10195 ··············​<TextSectionType·​id="16907">
10210 ················​<Name·​lang="en">Definition<​/​Name>10196 ················​<Name·​lang="en">Definition<​/​Name>
10211 ··············​</​TextSectionType>10197 ··············​</​TextSectionType>
10212 ··············​<Contents>A·​rare,​·​X-​linked,​·​syndromic·​intellectual·​disability·​disease·​characterized·​by·​neonatal·​hypertonia·​which·​evolves·​to·​hypotonia·​and·​an·​exaggerated·​startle·​response·​(to·​sudden·​visual,​·​auditory·​or·​tactile·​stimuli)​,​·​followed·​by·​the·​development·​of·​early-​onset,​·​frequently·​refractory,​·​tonic·​or·​myoclonic·​seizures.​·​Progressive·​epileptic·​encephalopathy,​·​intellectual·​disability,​·​and·​psychomotor·​development·​arrest,​·​with·​subsecuent·​decline,​·​may·​be·​additionally·​associated.​</​Contents>10198 ··············​<Contents>A·​rare,​·​X-​linked,​·​syndromic·​intellectual·​disability·​disease·​characterized·​by·​neonatal·​hypertonia·​which·​evolves·​to·​hypotonia·​and·​an·​exaggerated·​startle·​response·​(to·​sudden·​visual,​·​auditory·​or·​tactile·​stimuli)​,​·​followed·​by·​the·​development·​of·​early-​onset,​·​frequently·​refractory,​·​tonic·​or·​myoclonic·​seizures.​·​Progressive·​epileptic·​encephalopathy,​·​intellectual·​disability,​·​and·​psychomotor·​development·​arrest,​·​with·​subsequent·​decline,​·​may·​be·​additionally·​associated.​</​Contents>
10213 ············​</​TextSection>10199 ············​</​TextSection>
10214 ··········​</​TextSectionList>10200 ··········​</​TextSectionList>
10215 ········​</​SummaryInformation>10201 ········​</​SummaryInformation>
11089 ······​</​ExternalReferenceList​>11075 ······​</​ExternalReferenceList​>
11090 ······​<DisorderDisorderAsso​ciationList·​count="0">11076 ······​<DisorderDisorderAsso​ciationList·​count="0">
11091 ······​</​DisorderDisorderAssoc​iationList>11077 ······​</​DisorderDisorderAssoc​iationList>
11092 ······​<SummaryInformationLi​st·​count="1">11078 ······​<SummaryInformationLi​st·​count="0">
11093 ········<SummaryInformation·id="-​1"·lang="en">
11094 ··········<TextSectionList·count="0">
11095 ··········</​TextSectionList>
11096 ··········<TextAuto>
11097 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
11098 ··········</​TextAuto>
11099 ········</​SummaryInformation>
11100 ······​</​SummaryInformationLis​t>11079 ······​</​SummaryInformationLis​t>
11101 ····​</​Disorder>11080 ····​</​Disorder>
11102 ····​<Disorder·​id="97">11081 ····​<Disorder·​id="97">
21929 ··········​</​DisorderMappingValida​tionStatus>21908 ··········​</​DisorderMappingValida​tionStatus>
21930 ········​</​ExternalReference>21909 ········​</​ExternalReference>
21931 ······​</​ExternalReferenceList​>21910 ······​</​ExternalReferenceList​>
21932 ······​<DisorderDisorderAsso​ciationList·​count="0">21911 ······​<DisorderDisorderAsso​ciationList·​count="1">
21912 ········​<DisorderDisorderAsso​ciation>
21913 ··········​<TargetDisorder·​id="220"·​cycle="true"/​>
21914 ··········​<RootDisorder·​id="22112">
21915 ············​<OrphaCode>352740</​OrphaCode>
21916 ············​<Name·​lang="en">Ocular·​albinism·​with·​congenital·​sensorineural·​deafness</​Name>
21917 ··········​</​RootDisorder>
21918 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
21919 ············​<Name·​lang="en">Moved·​to</​Name>
21920 ··········​</​DisorderDisorderAssoc​iationType>
21921 ········​</​DisorderDisorderAssoc​iation>
21933 ······​</​DisorderDisorderAssoc​iationList>21922 ······​</​DisorderDisorderAssoc​iationList>
21934 ······​<SummaryInformationLi​st·​count="1">21923 ······​<SummaryInformationLi​st·​count="1">
21935 ········​<SummaryInformation·​id="90684"·​lang="en">21924 ········​<SummaryInformation·​id="90684"·​lang="en">
22559 ····​<Disorder·​id="209">22548 ····​<Disorder·​id="209">
22560 ······​<OrphaCode>628</​OrphaCode>22549 ······​<OrphaCode>628</​OrphaCode>
22561 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=628</​ExpertLink>22550 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=628</​ExpertLink>
22562 ······​<Name·​lang="en">Diastrophic​·​dwarfism</​Name>22551 ······​<Name·​lang="en">Diastrophic​·​dysplasia</​Name>
22563 ······​<DisorderFlagList·​count="1">22552 ······​<DisorderFlagList·​count="1">
22564 ········​<DisorderFlag·​id="475">22553 ········​<DisorderFlag·​id="475">
22565 ··········​<Value>1</​Value>22554 ··········​<Value>1</​Value>
22567 ········​</​DisorderFlag>22556 ········​</​DisorderFlag>
22568 ······​</​DisorderFlagList>22557 ······​</​DisorderFlagList>
22569 ······​<SynonymList·​count="1">22558 ······​<SynonymList·​count="1">
22570 ········​<Synonym·​lang="en">Diastrophic​·​dysplasia</​Synonym>22559 ········​<Synonym·​lang="en">Diastrophic​·​dwarfism</​Synonym>
22571 ······​</​SynonymList>22560 ······​</​SynonymList>
22572 ······​<DisorderType·​id="21394">22561 ······​<DisorderType·​id="21394">
22573 ········​<Name·​lang="en">Disease</​Name>22562 ········​<Name·​lang="en">Disease</​Name>
25354 ······​</​ExternalReferenceList​>25343 ······​</​ExternalReferenceList​>
25355 ······​<DisorderDisorderAsso​ciationList·​count="0">25344 ······​<DisorderDisorderAsso​ciationList·​count="0">
25356 ······​</​DisorderDisorderAssoc​iationList>25345 ······​</​DisorderDisorderAssoc​iationList>
25357 ······​<SummaryInformationLi​st·​count="1">25346 ······​<SummaryInformationLi​st·​count="0">
25358 ········<SummaryInformation·id="-​1"·lang="en">
25359 ··········<TextSectionList·count="0">
25360 ··········</​TextSectionList>
25361 ··········<TextAuto>
25362 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
25363 ··········</​TextAuto>
25364 ········</​SummaryInformation>
25365 ······​</​SummaryInformationLis​t>25347 ······​</​SummaryInformationLis​t>
25366 ····​</​Disorder>25348 ····​</​Disorder>
25367 ····​<Disorder·​id="17874">25349 ····​<Disorder·​id="17874">
30158 ··············​<TextSectionType·​id="16907">30140 ··············​<TextSectionType·​id="16907">
30159 ················​<Name·​lang="en">Definition<​/​Name>30141 ················​<Name·​lang="en">Definition<​/​Name>
30160 ··············​</​TextSectionType>30142 ··············​</​TextSectionType>
30161 ··············​<Contents>Unverricht-​Lundborg·disease·(ULD)​·is·a·​rare·​progressive·​myoclonic·​epilepsy·​disorder·​characterized·​by·​action-​·​and·​stimulus-​sensitive·​myoclonus,​·​and·​tonic-​clonic·​seizures·​with·​ataxia,​·​but·​with·​only·​a·​mild·​cognitive·​decline·​over·​time.​</​Contents>30143 ··············​<Contents>A·​rare·​progressive·​myoclonic·​epilepsy·(PME)​·​disorder·​characterized·​by·​action-​·​and·​stimulus-​sensitive·​myoclonus,​·​and·​tonic-​clonic·​seizures·​with·​ataxia,​·​but·​with·​only·​a·​mild·​cognitive·​decline·​over·​time.​</​Contents>
30162 ············​</​TextSection>30144 ············​</​TextSection>
30163 ··········​</​TextSectionList>30145 ··········​</​TextSectionList>
30164 ········​</​SummaryInformation>30146 ········​</​SummaryInformation>
30486 ··············​<TextSectionType·​id="16907">30468 ··············​<TextSectionType·​id="16907">
30487 ················​<Name·​lang="en">Definition<​/​Name>30469 ················​<Name·​lang="en">Definition<​/​Name>
30488 ··············​</​TextSectionType>30470 ··············​</​TextSectionType>
30489 ··············​<Contents>Cornelia·de·Lange·syndrome·(CdLS)​·is·a·​multisystem·disorder·with·variable·expression·marked·by·a·​characteristic·​facial·​dysmorphism,​·variable·degrees·​of·​intellectual·​deficit,​·severe·​growth·​retardation·beginning·before·birth·(2nd·trimester)​,​·​abnormal·​hands·​and·​feet·​(oligodactyly,​·or·​sometimes·an·even·more·severe·amputation,​·and·constant·​brachymetacarpia·​of·​the·​first·​metacarpus)​,​·and·various·other·​malformations·(heart,​·kidney·&lt;​i&gt;​etc.​&lt;​/​i&gt;​)​.​</​Contents>30471 ··············​<Contents>A·rare·​multiple·congenital·anomalies·syndrome·​characterized·by·​facial·​dysmorphism,​·hypertrichosis,​·mild·to·profound·​intellectual·​disability,​·intrauterine·​growth·​restriction·(IUGR)​·and/​or·postnatal·growth·restriction,​·feeding·difficulties,​·​abnormalities·of·the·​hands·​and·​feet·​(ranging·from·​severe·reductional·limb·abnormalities,​·oligodactyly,​·to·​brachymetacarpia·​of·​the·​first·​metacarpus)​.​·Variable·visceral·​malformations·may·be·present.​</​Contents>
30490 ············​</​TextSection>30472 ············​</​TextSection>
30491 ··········​</​TextSectionList>30473 ··········​</​TextSectionList>
30492 ········​</​SummaryInformation>30474 ········​</​SummaryInformation>
39841 ······​</​ExternalReferenceList​>39823 ······​</​ExternalReferenceList​>
39842 ······​<DisorderDisorderAsso​ciationList·​count="0">39824 ······​<DisorderDisorderAsso​ciationList·​count="0">
39843 ······​</​DisorderDisorderAssoc​iationList>39825 ······​</​DisorderDisorderAssoc​iationList>
39844 ······​<SummaryInformationLi​st·​count="1">39826 ······​<SummaryInformationLi​st·​count="0">
39845 ········<SummaryInformation·id="-​1"·lang="en">
39846 ··········<TextSectionList·count="0">
39847 ··········</​TextSectionList>
39848 ··········<TextAuto>
39849 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
39850 ··········</​TextAuto>
39851 ········</​SummaryInformation>
39852 ······​</​SummaryInformationLis​t>39827 ······​</​SummaryInformationLis​t>
39853 ····​</​Disorder>39828 ····​</​Disorder>
39854 ····​<Disorder·​id="446">39829 ····​<Disorder·​id="446">
44785 ······​</​ExternalReferenceList​>44760 ······​</​ExternalReferenceList​>
44786 ······​<DisorderDisorderAsso​ciationList·​count="0">44761 ······​<DisorderDisorderAsso​ciationList·​count="0">
44787 ······​</​DisorderDisorderAssoc​iationList>44762 ······​</​DisorderDisorderAssoc​iationList>
44788 ······​<SummaryInformationLi​st·​count="1">44763 ······​<SummaryInformationLi​st·​count="0">
44789 ········<SummaryInformation·id="-​1"·lang="en">
44790 ··········<TextSectionList·count="0">
44791 ··········</​TextSectionList>
44792 ··········<TextAuto>
44793 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
44794 ··········</​TextAuto>
44795 ········</​SummaryInformation>
44796 ······​</​SummaryInformationLis​t>44764 ······​</​SummaryInformationLis​t>
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45683 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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49680 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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50686 ······​</​DisorderDisorderAssoc​iationList>50640 ······​</​DisorderDisorderAssoc​iationList>
50687 ······​<SummaryInformationLi​st·​count="1">50641 ······​<SummaryInformationLi​st·​count="0">
50688 ········<SummaryInformation·id="-​1"·lang="en">
50689 ··········<TextSectionList·count="0">
50690 ··········</​TextSectionList>
50691 ··········<TextAuto>
50692 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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66449 ··············​<TextSectionType·​id="16907">66396 ··············​<TextSectionType·​id="16907">
66450 ················​<Name·​lang="en">Definition<​/​Name>66397 ················​<Name·​lang="en">Definition<​/​Name>
66451 ··············​</​TextSectionType>66398 ··············​</​TextSectionType>
66452 ··············​<Contents>Hirschsprun​g·disease·(HSCR)​·is·a·​congenital·​intestinal·​motility·​disorder·​that·​is·​characterized·​by·​signs·​of·​intestinal·​obstruction·​due·​to·​the·​presence·​of·​an·​aganglionic·​segment·​of·​variable·​extent·​in·​the·​terminal·​part·​of·​the·​colon.​</​Contents>66399 ··············​<Contents>A·rare·​congenital·​intestinal·​motility·​disorder·​that·​is·​characterized·​by·​signs·​of·​intestinal·​obstruction·​due·​to·​the·​presence·​of·​an·​aganglionic·​segment·​of·​variable·​extent·​in·​the·​terminal·​part·​of·​the·​colon.​</​Contents>
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69527 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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71764 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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72247 ··········<TextAuto>
72248 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
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75644 ··············​<TextSectionType·​id="16907">75570 ··············​<TextSectionType·​id="16907">
75645 ················​<Name·​lang="en">Definition<​/​Name>75571 ················​<Name·​lang="en">Definition<​/​Name>
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75647 ··············​<Contents>Renal·​pseudohypoaldosteroni​sm·​type·​1·(renal·PHA1)​·​is·​a·mild·form·of·​primary·mineralocorticoid·​resistance·​restricted·to·the·kidney.​</​Contents>75573 ··············​<Contents>A·form·of·​pseudohypoaldosteroni​sm·​type·​1·characterized·by·mild·mineralocorticoid·resistance·that·is·restricted·to·the·kidneys·and·that·usually·improves·in·early·childhood.​·Typical·presentation·is·in·the·neonatal·period·with·weight·loss,​·failure·to·thrive,​·vomiting·and·dehydration·in·association·with·hyponatremia,​·hyperkalemia·and·metabolic·acidosis·as·well·as·elevated·aldosterone·and·renin·levels.​</​Contents>
75648 ············​</​TextSection>75574 ············​</​TextSection>
75649 ··········​</​TextSectionList>75575 ··········​</​TextSectionList>
75650 ········​</​SummaryInformation>75576 ········​</​SummaryInformation>
76589 ··············​<TextSectionType·​id="16907">76515 ··············​<TextSectionType·​id="16907">
76590 ················​<Name·​lang="en">Definition<​/​Name>76516 ················​<Name·​lang="en">Definition<​/​Name>
76591 ··············​</​TextSectionType>76517 ··············​</​TextSectionType>
76592 ··············​<Contents>Generalized​·​pseudohypoaldosteroni​sm·​type·​1·(generalized·PHA1)​·is·​a·​severe·​form·​of·primary·​mineralocorticoid·resistance·​with·systemic·​involvement·​and·salt·loss·​in·​multiple·​organs.​</​Contents>76518 ··············​<Contents>A·severe·form·of·​pseudohypoaldosteroni​sm·​type·​1·characterized·by·salt·wasting·in·multiple·organs·including·the·kidney,​·colon,​·and·sweat·and·salivary·glands.​·Presentation·is·in·the·​first·few·weeks·​of·life·with·severe·dehydration,​·vomiting·and·failure·to·thrive·in·association·​with·hyponatremia,​·hyperkalemia·and·metabolic·acidosis·as·well·as·elevated·aldosterone·​and·renin·levels.​·No·remission·is·reported·and·patients·suffer·from·recurrent·life-​threatening·episodes·​of·salt·loss.​</​Contents>
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76595 ········​</​SummaryInformation>76521 ········​</​SummaryInformation>
78598 ··············​<TextSectionType·​id="16907">78524 ··············​<TextSectionType·​id="16907">
78599 ················​<Name·​lang="en">Definition<​/​Name>78525 ················​<Name·​lang="en">Definition<​/​Name>
78600 ··············​</​TextSectionType>78526 ··············​</​TextSectionType>
78601 ··············​<Contents>Immunodefic​iency·​with·​factor·​I·​anomaly·​is·​a·​rare,​·​genetic,​·​primary·​immunodeficiency·​disease·​characterized·​by·​increased·​susceptibility·​to·​recurrent,​·​usually·​severe,​·​infections·​(particularly·​by·​&lt;​i&gt;​Neisseria·​meningitidis&lt;​/​i&gt;​,​·​&lt;​i&gt;​Haemophilus·​influenzae&lt;​/​i&gt;​·​and·​&lt;​i&gt;​Streptococcus·​pneumonia&lt;​/​i&gt;​)​,​·​typically·​manifesting·​as·​otitis,​·​sinusitis,​·​bronchitis,​·​pneumonia,​·​and/​or·​meningitis.​·​Autoimmune·​disease·​(e.​g.​·​systemic·​lupus·​erythematosus,​·​glomerulonephritis)​·​and·​atypical·​hemolytic·​uremic·​syndrome·​may·​be·​associated.​·​Laboratory·​serum·​analysis·​reveals,​·​in·​addition·​to·​diminished·​or·​undetectable·​complement·​factor·​I,​·​variably·​decreased·​complement·​C3,​·​complement·​factor·​B·​and·​complement·​factor·​H.​</​Contents>78527 ··············​<Contents>Immunodefic​iency·​with·​factor·​I·​anomaly·​is·​a·​rare,​·​genetic,​·​primary·​immunodeficiency·​disease·​characterized·​by·​increased·​susceptibility·​to·​recurrent,​·​usually·​severe,​·​infections·​(particularly·​by·​&lt;​i&gt;​Neisseria·​meningitidis&lt;​/​i&gt;​,​·​&lt;​i&gt;​Haemophilus·​influenzae&lt;​/​i&gt;​·​and·​&lt;​i&gt;​Streptococcus·​pneumoniae&lt;​/​i&gt;​)​,​·​typically·​manifesting·​as·​otitis,​·​sinusitis,​·​bronchitis,​·​pneumonia,​·​and/​or·​meningitis.​·​Autoimmune·​disease·​(e.​g.​·​systemic·​lupus·​erythematosus,​·​glomerulonephritis)​·​and·​atypical·​hemolytic·​uremic·​syndrome·​may·​be·​associated.​·​Laboratory·​serum·​analysis·​reveals,​·​in·​addition·​to·​diminished·​or·​undetectable·​complement·​factor·​I,​·​variably·​decreased·​complement·​C3,​·​complement·​factor·​B·​and·​complement·​factor·​H.​</​Contents>
78602 ············​</​TextSection>78528 ············​</​TextSection>
78603 ··········​</​TextSectionList>78529 ··········​</​TextSectionList>
78604 ········​</​SummaryInformation>78530 ········​</​SummaryInformation>
78750 ··············​<TextSectionType·​id="16907">78676 ··············​<TextSectionType·​id="16907">
78751 ················​<Name·​lang="en">Definition<​/​Name>78677 ················​<Name·​lang="en">Definition<​/​Name>
78752 ··············​</​TextSectionType>78678 ··············​</​TextSectionType>
78753 ··············​<Contents>Immunodefic​iency·​with·​factor·​H·​anomaly·​is·​a·​rare,​·​genetic,​·​primary·​immunodeficiency·​disease·​characterized·​by·​increased·​susceptibility·​to·​recurrent,​·​usually·​severe,​·​infections·​(particularly·​by·​&lt;​i&gt;​·​Neisseria·​meningitidis&lt;​/​i&gt;​,​·​&lt;​i&gt;​Escherichia·​coli&lt;​/​i&gt;​,​·​and·​&lt;​i&gt;​Haemophilus·​influenzae&lt;​/​i&gt;​)​,​·​renal·​impairment·​and/​or·​autoimmune·​diseases,​·​typically·​manifesting·​with·​otitis·​media,​·​bronchitis,​·​meningitis,​·​and/​or·​septicemia,​·​as·​well·​as·​hematuria/​proteinuria,​·​asthma,​·​nephrotic·​syndrome,​·​hemolytic·​uremic·​syndrome,​·​glomerulonephritis,​·​and/​or·​systemic·​lupus·​erythematosus.​·​Laboratory·​serum·​analysis·​reveals,​·​in·​addition·​to·​factor·​H·​deficiency,​·​decreased·​complement·​factor·​B,​·​properin,​·​complement·​C3·​and·​terminal·​complement·​components.​</​Contents>78679 ··············​<Contents>Immunodefic​iency·​with·​factor·​H·​anomaly·​is·​a·​rare,​·​genetic,​·​primary·​immunodeficiency·​disease·​characterized·​by·​increased·​susceptibility·​to·​recurrent,​·​usually·​severe,​·​infections·​(particularly·​by·​&lt;​i&gt;​·​Neisseria·​meningitidis&lt;​/​i&gt;​,​·​&lt;​i&gt;​Escherichia·​coli&lt;​/​i&gt;​,​·​and·​&lt;​i&gt;​Haemophilus·​influenzae&lt;​/​i&gt;​)​,​·​renal·​impairment·​and/​or·​autoimmune·​diseases,​·​typically·​manifesting·​with·​otitis·​media,​·​bronchitis,​·​meningitis,​·​and/​or·​septicemia,​·​as·​well·​as·​hematuria/​proteinuria,​·​asthma,​·​nephrotic·​syndrome,​·​hemolytic·​uremic·​syndrome,​·​glomerulonephritis,​·​and/​or·​systemic·​lupus·​erythematosus.​·​Laboratory·​serum·​analysis·​reveals,​·​in·​addition·​to·​factor·​H·​deficiency,​·​decreased·​complement·​factor·​B,​·​properdin,​·​complement·​C3·​and·​terminal·​complement·​components.​</​Contents>
78754 ············​</​TextSection>78680 ············​</​TextSection>
78755 ··········​</​TextSectionList>78681 ··········​</​TextSectionList>
78756 ········​</​SummaryInformation>78682 ········​</​SummaryInformation>
83701 ··············​<TextSectionType·​id="16907">83627 ··············​<TextSectionType·​id="16907">
83702 ················​<Name·​lang="en">Definition<​/​Name>83628 ················​<Name·​lang="en">Definition<​/​Name>
83703 ··············​</​TextSectionType>83629 ··············​</​TextSectionType>
83704 ··············​<Contents>Bronchogeni​c·cysts·(BCs)​·are·congenital·​malformations·​resulting·​from·​abnormal·​budding·​of·​the·​foregut·​and·​are·​most·​commonly·​found·​in·​the·​mediastinum.​</​Contents>83630 ··············​<Contents>Congenital·​malformations·​resulting·​from·​abnormal·​budding·​of·​the·​foregut·​and·​are·​most·​commonly·​found·​in·​the·​mediastinum.​</​Contents>
83705 ············​</​TextSection>83631 ············​</​TextSection>
83706 ··········​</​TextSectionList>83632 ··········​</​TextSectionList>
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92176 ··············​<TextSectionType·​id="16907">92102 ··············​<TextSectionType·​id="16907">
92177 ················​<Name·​lang="en">Definition<​/​Name>92103 ················​<Name·​lang="en">Definition<​/​Name>
92178 ··············​</​TextSectionType>92104 ··············​</​TextSectionType>
92179 ··············​<Contents>A·​malignant·​hepatic·​tumor,​·​typically·​affecting·​the·​pediatric·​population,​·​arising·​mostly·​in·​an·​otherwise·​healthy·​liver.​·​The·​most·​common·​signs·​are·​addominal·​distension·​and·​abdominal·​mass.​·​Sometimes·​patients·​present·​with·​anorexia,​·​weight·​loss,​·​fatigue.​·​Most·​HBLs·​are·​sporadic,​·​but·​some·​cases·​are·​associated·​with·​genetic·​factors,​·​especially·​overgrowth·​syndromes,​·​such·​as·​Beckwith-​Wiedemann·​syndrome·​(BWS)​·​or·​hemihypertrophy,​·​and·​familial·​adenomatous·​polyposis·​(FAP)​.​</​Contents>92105 ··············​<Contents>A·​malignant·​hepatic·​tumor,​·​typically·​affecting·​the·​pediatric·​population,​·​arising·​mostly·​in·​an·​otherwise·​healthy·​liver.​·​The·​most·​common·​signs·​are·​abdominal·​distension·​and·​abdominal·​mass.​·​Sometimes·​patients·​present·​with·​anorexia,​·​weight·​loss,​·​fatigue.​·​Most·​HBLs·​are·​sporadic,​·​but·​some·​cases·​are·​associated·​with·​genetic·​factors,​·​especially·​overgrowth·​syndromes,​·​such·​as·​Beckwith-​Wiedemann·​syndrome·​(BWS)​·​or·​hemihypertrophy,​·​and·​familial·​adenomatous·​polyposis·​(FAP)​.​</​Contents>
92180 ············​</​TextSection>92106 ············​</​TextSection>
92181 ··········​</​TextSectionList>92107 ··········​</​TextSectionList>
92182 ········​</​SummaryInformation>92108 ········​</​SummaryInformation>
97433 ··············​<TextSectionType·​id="16907">97359 ··············​<TextSectionType·​id="16907">
97434 ················​<Name·​lang="en">Definition<​/​Name>97360 ················​<Name·​lang="en">Definition<​/​Name>
97435 ··············​</​TextSectionType>97361 ··············​</​TextSectionType>
97436 ··············​<Contents>Familial·hyperaldosteronism·type·I·(FH-​I)​·is·a·​rare·​heritable,​·​glucocorticoid·​remediable·​form·​of·​primary·​aldosteronism·​(PA)​·​characterized·​by·​early-​onset·​hypertension,​·​hyperaldosteronism,​·​variable·​hypokalemia,​·​low·​plasma·​renin·​activity·​(PRA)​,​·​and·​abnormal·​production·​of·​18-​oxocortisol·​and·​18-​hydroxycortisol.​</​Contents>97362 ··············​<Contents>A·​rare·​heritable,​·​glucocorticoid·​remediable·​form·​of·​primary·​aldosteronism·​(PA)​·​characterized·​by·​early-​onset·​hypertension,​·​hyperaldosteronism,​·​variable·​hypokalemia,​·​low·​plasma·​renin·​activity·​(PRA)​,​·​and·​abnormal·​production·​of·​18-​oxocortisol·​and·​18-​hydroxycortisol.​</​Contents>
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97746 ······​<SummaryInformationLi​st·​count="1">97672 ······​<SummaryInformationLi​st·​count="0">
97747 ········<SummaryInformation·id="-​1"·lang="en">
97748 ··········<TextSectionList·count="0">
97749 ··········</​TextSectionList>
97750 ··········<TextAuto>
97751 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
97752 ··········</​TextAuto>
97753 ········</​SummaryInformation>
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97755 ····​</​Disorder>97674 ····​</​Disorder>
97756 ····​<Disorder·​id="906">97675 ····​<Disorder·​id="906">
101942 ······​</​ExternalReferenceList​>101861 ······​</​ExternalReferenceList​>
101943 ······​<DisorderDisorderAsso​ciationList·​count="0">101862 ······​<DisorderDisorderAsso​ciationList·​count="0">
101944 ······​</​DisorderDisorderAssoc​iationList>101863 ······​</​DisorderDisorderAssoc​iationList>
101945 ······​<SummaryInformationLi​st·​count="1">101864 ······​<SummaryInformationLi​st·​count="0">
101946 ········<SummaryInformation·id="-​1"·lang="en">
101947 ··········<TextSectionList·count="0">
101948 ··········</​TextSectionList>
101949 ··········<TextAuto>
101950 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
101951 ··········</​TextAuto>
101952 ········</​SummaryInformation>
101953 ······​</​SummaryInformationLis​t>101865 ······​</​SummaryInformationLis​t>
101954 ····​</​Disorder>101866 ····​</​Disorder>
101955 ····​<Disorder·​id="18202">101867 ····​<Disorder·​id="18202">
102668 ······​</​ExternalReferenceList​>102580 ······​</​ExternalReferenceList​>
102669 ······​<DisorderDisorderAsso​ciationList·​count="0">102581 ······​<DisorderDisorderAsso​ciationList·​count="0">
102670 ······​</​DisorderDisorderAssoc​iationList>102582 ······​</​DisorderDisorderAssoc​iationList>
102671 ······​<SummaryInformationLi​st·​count="1">102583 ······​<SummaryInformationLi​st·​count="0">
102672 ········<SummaryInformation·id="-​1"·lang="en">
102673 ··········<TextSectionList·count="0">
102674 ··········</​TextSectionList>
102675 ··········<TextAuto>
102676 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
102677 ··········</​TextAuto>
102678 ········</​SummaryInformation>
102679 ······​</​SummaryInformationLis​t>102584 ······​</​SummaryInformationLis​t>
102680 ····​</​Disorder>102585 ····​</​Disorder>
102681 ····​<Disorder·​id="18199">102586 ····​<Disorder·​id="18199">
104744 ······​</​ExternalReferenceList​>104649 ······​</​ExternalReferenceList​>
104745 ······​<DisorderDisorderAsso​ciationList·​count="0">104650 ······​<DisorderDisorderAsso​ciationList·​count="0">
104746 ······​</​DisorderDisorderAssoc​iationList>104651 ······​</​DisorderDisorderAssoc​iationList>
104747 ······​<SummaryInformationLi​st·​count="1">104652 ······​<SummaryInformationLi​st·​count="0">
104748 ········<SummaryInformation·id="-​1"·lang="en">
104749 ··········<TextSectionList·count="0">
104750 ··········</​TextSectionList>
104751 ··········<TextAuto>
104752 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
104753 ··········</​TextAuto>
104754 ········</​SummaryInformation>
104755 ······​</​SummaryInformationLis​t>104653 ······​</​SummaryInformationLis​t>
104756 ····​</​Disorder>104654 ····​</​Disorder>
104757 ····​<Disorder·​id="965">104655 ····​<Disorder·​id="965">
112368 ··············​<TextSectionType·​id="16907">112266 ··············​<TextSectionType·​id="16907">
112369 ················​<Name·​lang="en">Definition<​/​Name>112267 ················​<Name·​lang="en">Definition<​/​Name>
112370 ··············​</​TextSectionType>112268 ··············​</​TextSectionType>
112371 ··············​<Contents>Short-​limb·skeletal·dysplasia·with·​severe·​combined·​immunodeficiency·is·an·extremely·rare·type·of·SCID·(see·this·term)​·​characterized·​by·​the·​classical·​signs·​of·​T-​B-​·​SCID·​(severe·​and·​recurrent·​infections,​·​diarrhea,​·​failure·​to·​thrive,​·​absence·​of·​T·​and·​B·​lymphocytes)​·(see·this·term)​,​·​associated·​with·​skeletal·​anomalies·​like·​short·​stature,​·​bowing·​of·​the·​long·​bones·​and·​metaphyseal·​abnormalities·​of·​variable·​degree·​of·​severity.​</​Contents>112269 ··············​<Contents>An·extremely·rare·type·of·​severe·​combined·​immunodeficiency·(SCID)​·​characterized·​by·​the·​classical·​signs·​of·​T-​B-​·​SCID·​(severe·​and·​recurrent·​infections,​·​diarrhea,​·​failure·​to·​thrive,​·​absence·​of·​T·​and·​B·​lymphocytes)​,​·​associated·​with·​skeletal·​anomalies·​like·​short·​stature,​·​bowing·​of·​the·​long·​bones·​and·​metaphyseal·​abnormalities·​of·​variable·​degree·​of·​severity.​</​Contents>
112372 ············​</​TextSection>112270 ············​</​TextSection>
112373 ··········​</​TextSectionList>112271 ··········​</​TextSectionList>
112374 ········​</​SummaryInformation>112272 ········​</​SummaryInformation>
116433 ··········​<Value>8192</​Value>116331 ··········​<Value>8192</​Value>
116434 ··········​<Label>Inactive</​Label>116332 ··········​<Label>Inactive</​Label>
116435 ········​</​DisorderFlag>116333 ········​</​DisorderFlag>
116436 ········​<DisorderFlag·​id="461">116334 ········​<DisorderFlag·​id="455">
116437 ··········​<Value>1024</​Value>116335 ··········​<Value>16</​Value>
116438 ··········​<Label>Obsolete·with·resources</​Label>116336 ··········​<Label>Obsolete·​entity</​Label>
116439 ········​</​DisorderFlag>116337 ········​</​DisorderFlag>
116440 ······​</​DisorderFlagList>116338 ······​</​DisorderFlagList>
116441 ······​<SynonymList·​count="0">116339 ······​<SynonymList·​count="0">
121329 ··············​<TextSectionType·​id="16907">121227 ··············​<TextSectionType·​id="16907">
121330 ················​<Name·​lang="en">Definition<​/​Name>121228 ················​<Name·​lang="en">Definition<​/​Name>
121331 ··············​</​TextSectionType>121229 ··············​</​TextSectionType>
121332 ··············​<Contents>A·​rare·​syndrome·​of·​multiple·​congenital·​anomalies·​characterized·​by·​radial·​ray·​malformations,​·​renal·​abnormalities·​(mild·​malrotation,​·​ectopia,​·​horseshoe·​kidney,​·​renal·​hypoplasia,​·​vesico-​ureteral·​reflux,​·​bladder·​diverticula)​,​·​and·​ophthalmological·​abnormalities·​(mainly·​colobomas,​·​but·​also·​microphthalmia,​·​ptosis,​·​and·​Duane·​anomaly)​.​·​The·​phenotype·​overlaps·​with·​other·​&lt;​i&gt;​SALL4&gt;​/​i&gt;​·related·​disorders·​including·​Okihiro·​syndrome·​and·​Holt-​Oram·​syndrome.​</​Contents>121230 ··············​<Contents>A·​rare·​syndrome·​of·​multiple·​congenital·​anomalies·​characterized·​by·​radial·​ray·​malformations,​·​renal·​abnormalities·​(mild·​malrotation,​·​ectopia,​·​horseshoe·​kidney,​·​renal·​hypoplasia,​·​vesico-​ureteral·​reflux,​·​bladder·​diverticula)​,​·​and·​ophthalmological·​abnormalities·​(mainly·​colobomas,​·​but·​also·​microphthalmia,​·​ptosis,​·​and·​Duane·​anomaly)​.​·​The·​phenotype·​overlaps·​with·​other·​&lt;​i&gt;​SALL4&lt;​/​i&gt;​-​related·​disorders·​including·​Okihiro·​syndrome·​and·​Holt-​Oram·​syndrome.​</​Contents>
121333 ············​</​TextSection>121231 ············​</​TextSection>
121334 ··········​</​TextSectionList>121232 ··········​</​TextSectionList>
121335 ········​</​SummaryInformation>121233 ········​</​SummaryInformation>
146748 ··············​<TextSectionType·​id="16907">146646 ··············​<TextSectionType·​id="16907">
146749 ················​<Name·​lang="en">Definition<​/​Name>146647 ················​<Name·​lang="en">Definition<​/​Name>
146750 ··············​</​TextSectionType>146648 ··············​</​TextSectionType>
146751 ··············​<Contents>Heart·defect·Â–·round·face·Â–·congenital·developmental·delay·is·​very·​rare·​syndrome·​described·​in·​three·​sibs·​of·​one·​Japanese·​family·​and·​characterized·​by·​congenital·​heart·​disease,​·​round·​face·​with·​depressed·​nasal·​bridge,​·​small·​mouth,​·​short·​stature,​·​and·​relatively·​dark·​skin·​and·​typical·​dermatoglyphic·​anomalies,​·​and·​intellectual·​deficit.​</​Contents>146649 ··············​<Contents>A·​very·​rare·​syndrome·​described·​in·​three·​sibs·​of·​one·​Japanese·​family·​and·​characterized·​by·​congenital·​heart·​disease,​·​round·​face·​with·​depressed·​nasal·​bridge,​·​small·​mouth,​·​short·​stature,​·​and·​relatively·​dark·​skin·​and·​typical·​dermatoglyphic·​anomalies,​·​and·​intellectual·​deficit.​</​Contents>
146752 ············​</​TextSection>146650 ············​</​TextSection>
146753 ··········​</​TextSectionList>146651 ··········​</​TextSectionList>
146754 ········​</​SummaryInformation>146652 ········​</​SummaryInformation>
157774 ······​</​ExternalReferenceList​>157672 ······​</​ExternalReferenceList​>
157775 ······​<DisorderDisorderAsso​ciationList·​count="0">157673 ······​<DisorderDisorderAsso​ciationList·​count="0">
157776 ······​</​DisorderDisorderAssoc​iationList>157674 ······​</​DisorderDisorderAssoc​iationList>
157777 ······​<SummaryInformationLi​st·​count="1">157675 ······​<SummaryInformationLi​st·​count="0">
157778 ········<SummaryInformation·id="-​1"·lang="en">
157779 ··········<TextSectionList·count="0">
157780 ··········</​TextSectionList>
157781 ··········<TextAuto>
157782 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
157783 ··········</​TextAuto>
157784 ········</​SummaryInformation>
157785 ······​</​SummaryInformationLis​t>157676 ······​</​SummaryInformationLis​t>
157786 ····​</​Disorder>157677 ····​</​Disorder>
157787 ····​<Disorder·​id="1676">157678 ····​<Disorder·​id="1676">
158473 ······​</​ExternalReferenceList​>158364 ······​</​ExternalReferenceList​>
158474 ······​<DisorderDisorderAsso​ciationList·​count="0">158365 ······​<DisorderDisorderAsso​ciationList·​count="0">
158475 ······​</​DisorderDisorderAssoc​iationList>158366 ······​</​DisorderDisorderAssoc​iationList>
158476 ······​<SummaryInformationLi​st·​count="1">158367 ······​<SummaryInformationLi​st·​count="0">
158477 ········<SummaryInformation·id="-​1"·lang="en">
158478 ··········<TextSectionList·count="0">
158479 ··········</​TextSectionList>
158480 ··········<TextAuto>
158481 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
158482 ··········</​TextAuto>
158483 ········</​SummaryInformation>
158484 ······​</​SummaryInformationLis​t>158368 ······​</​SummaryInformationLis​t>
158485 ····​</​Disorder>158369 ····​</​Disorder>
158486 ····​<Disorder·​id="1674">158370 ····​<Disorder·​id="1674">
166943 ··············​<TextSectionType·​id="16907">166827 ··············​<TextSectionType·​id="16907">
166944 ················​<Name·​lang="en">Definition<​/​Name>166828 ················​<Name·​lang="en">Definition<​/​Name>
166945 ··············​</​TextSectionType>166829 ··············​</​TextSectionType>
166946 ··············​<Contents>A·​rare·​primary·​bone·​dysplasia·​characterized,​·​radiologically,​·​by·​short,​·​stubby·​long·​bones,​·​severely·​angulated·​femurs·​and·​lesser·​bowing·​of·​other·​long·​bones·​(mild,​·​moderate·​or·​no·​bowing)​,​·​short·​and·​wide·​illiac·​wings·​with·​horizontal·​acetabular·​roofs,​·​platyspondyly·​and·​a·​narrow·​thorax,​·​clinically·​manifesting·​with·​severe,​·​disproportionate·​short·​stature.​·​Regression·​of·​femora·​angulation·​is·​observed·​with·​advancing·​age.​</​Contents>166830 ··············​<Contents>A·​rare·​primary·​bone·​dysplasia·​characterized,​·​radiologically,​·​by·​short,​·​stubby·​long·​bones,​·​severely·​angulated·​femurs·​and·​lesser·​bowing·​of·​other·​long·​bones·​(mild,​·​moderate·​or·​no·​bowing)​,​·​short·​and·​wide·​iliac·​wings·​with·​horizontal·​acetabular·​roofs,​·​platyspondyly·​and·​a·​narrow·​thorax,​·​clinically·​manifesting·​with·​severe,​·​disproportionate·​short·​stature.​·​Regression·​of·​femora·​angulation·​is·​observed·​with·​advancing·​age.​</​Contents>
166947 ············​</​TextSection>166831 ············​</​TextSection>
166948 ··········​</​TextSectionList>166832 ··········​</​TextSectionList>
166949 ········​</​SummaryInformation>166833 ········​</​SummaryInformation>
169830 ··········​</​DisorderDisorderAssoc​iationType>169714 ··········​</​DisorderDisorderAssoc​iationType>
169831 ········​</​DisorderDisorderAssoc​iation>169715 ········​</​DisorderDisorderAssoc​iation>
169832 ······​</​DisorderDisorderAssoc​iationList>169716 ······​</​DisorderDisorderAssoc​iationList>
169833 ······​<SummaryInformationLi​st·​count="1">169717 ······​<SummaryInformationLi​st·​count="0">
169834 ········<SummaryInformation·id="-​1"·lang="en">
169835 ··········<TextSectionList·count="0">
169836 ··········</​TextSectionList>
169837 ··········<TextAuto>
169838 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
169839 ··········</​TextAuto>
169840 ········</​SummaryInformation>
169841 ······​</​SummaryInformationLis​t>169718 ······​</​SummaryInformationLis​t>
169842 ····​</​Disorder>169719 ····​</​Disorder>
169843 ····​<Disorder·​id="2000">169720 ····​<Disorder·​id="2000">
171015 ······​</​ExternalReferenceList​>170892 ······​</​ExternalReferenceList​>
171016 ······​<DisorderDisorderAsso​ciationList·​count="0">170893 ······​<DisorderDisorderAsso​ciationList·​count="0">
171017 ······​</​DisorderDisorderAssoc​iationList>170894 ······​</​DisorderDisorderAssoc​iationList>
171018 ······​<SummaryInformationLi​st·​count="1">170895 ······​<SummaryInformationLi​st·​count="0">
171019 ········<SummaryInformation·id="-​1"·lang="en">
171020 ··········<TextSectionList·count="0">
171021 ··········</​TextSectionList>
171022 ··········<TextAuto>
171023 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
171024 ··········</​TextAuto>
171025 ········</​SummaryInformation>
171026 ······​</​SummaryInformationLis​t>170896 ······​</​SummaryInformationLis​t>
171027 ····​</​Disorder>170897 ····​</​Disorder>
171028 ····​<Disorder·​id="2014">170898 ····​<Disorder·​id="2014">
171163 ······​</​ExternalReferenceList​>171033 ······​</​ExternalReferenceList​>
171164 ······​<DisorderDisorderAsso​ciationList·​count="0">171034 ······​<DisorderDisorderAsso​ciationList·​count="0">
171165 ······​</​DisorderDisorderAssoc​iationList>171035 ······​</​DisorderDisorderAssoc​iationList>
171166 ······​<SummaryInformationLi​st·​count="1">171036 ······​<SummaryInformationLi​st·​count="0">
171167 ········<SummaryInformation·id="-​1"·lang="en">
171168 ··········<TextSectionList·count="0">
171169 ··········</​TextSectionList>
171170 ··········<TextAuto>
171171 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
171172 ··········</​TextAuto>
171173 ········</​SummaryInformation>
171174 ······​</​SummaryInformationLis​t>171037 ······​</​SummaryInformationLis​t>
171175 ····​</​Disorder>171038 ····​</​Disorder>
171176 ····​<Disorder·​id="2015">171039 ····​<Disorder·​id="2015">
180432 ··············​<TextSectionType·​id="16907">180295 ··············​<TextSectionType·​id="16907">
180433 ················​<Name·​lang="en">Definition<​/​Name>180296 ················​<Name·​lang="en">Definition<​/​Name>
180434 ··············​</​TextSectionType>180297 ··············​</​TextSectionType>
180435 ··············​<Contents>A·​rare·​primary·​bone·​dysplasia·​syndrome·​characterized·​by·​growth·​retardation·​with·​proportionate·​short·​stature,​·​cortical·​thickening·​and·​medullary·​stenosis·​of·​the·​long·​bones,​·​delayed·​anterior·​fontanelle·​closure,​·​hypocalcemia·​due·​to·​congenital·​hypoparathyroidism·​and·​facial·​dysmorphism,​·​including·​prominent·​forehead,​·​microphthalmia,​·​and·​micrognathia.​·​Additonal·​manifestations·​include·​ocular·​and·​dental·​anomalies·​(e.​g.​·​corneal·​opacity,​·​hyperopia,​·​optic·​atrophy,​·​tortuous·​retinal·​vessels,​·​dental·​caries,​·​enamel·​defects)​·​and,​·​occasionally,​·​hypoplastic·​nails·​and·​neonatal·​liver·​disease.​·​Inheritance·​may·​be·​autosomal·​dominant·​or·​autosomal·​recessive,​·​with·​more·​severe·​growth·​retardation,​·​small·​hands·​and·​feet,​·​intellectual·​disability,​·​microcephaly·​and·​recurrent·​bacterial·​infections·​being·​observed·​in·​the·​latter.​</​Contents>180298 ··············​<Contents>A·​rare·​primary·​bone·​dysplasia·​syndrome·​characterized·​by·​growth·​retardation·​with·​proportionate·​short·​stature,​·​cortical·​thickening·​and·​medullary·​stenosis·​of·​the·​long·​bones,​·​delayed·​anterior·​fontanelle·​closure,​·​hypocalcemia·​due·​to·​congenital·​hypoparathyroidism·​and·​facial·​dysmorphism,​·​including·​prominent·​forehead,​·​microphthalmia,​·​and·​micrognathia.​·​Additional·​manifestations·​include·​ocular·​and·​dental·​anomalies·​(e.​g.​·​corneal·​opacity,​·​hyperopia,​·​optic·​atrophy,​·​tortuous·​retinal·​vessels,​·​dental·​caries,​·​enamel·​defects)​·​and,​·​occasionally,​·​hypoplastic·​nails·​and·​neonatal·​liver·​disease.​·​Inheritance·​may·​be·​autosomal·​dominant·​or·​autosomal·​recessive,​·​with·​more·​severe·​growth·​retardation,​·​small·​hands·​and·​feet,​·​intellectual·​disability,​·​microcephaly·​and·​recurrent·​bacterial·​infections·​being·​observed·​in·​the·​latter.​</​Contents>
180436 ············​</​TextSection>180299 ············​</​TextSection>
180437 ··········​</​TextSectionList>180300 ··········​</​TextSectionList>
180438 ········​</​SummaryInformation>180301 ········​</​SummaryInformation>
182849 ······​</​ExternalReferenceList​>182712 ······​</​ExternalReferenceList​>
182850 ······​<DisorderDisorderAsso​ciationList·​count="0">182713 ······​<DisorderDisorderAsso​ciationList·​count="0">
182851 ······​</​DisorderDisorderAssoc​iationList>182714 ······​</​DisorderDisorderAssoc​iationList>
182852 ······​<SummaryInformationLi​st·​count="1">182715 ······​<SummaryInformationLi​st·​count="0">
182853 ········<SummaryInformation·id="-​1"·lang="en">
182854 ··········<TextSectionList·count="0">
182855 ··········</​TextSectionList>
182856 ··········<TextAuto>
182857 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
182858 ··········</​TextAuto>
182859 ········</​SummaryInformation>
182860 ······​</​SummaryInformationLis​t>182716 ······​</​SummaryInformationLis​t>
182861 ····​</​Disorder>182717 ····​</​Disorder>
182862 ····​<Disorder·​id="2233">182718 ····​<Disorder·​id="2233">
183421 ······​</​ExternalReferenceList​>183277 ······​</​ExternalReferenceList​>
183422 ······​<DisorderDisorderAsso​ciationList·​count="0">183278 ······​<DisorderDisorderAsso​ciationList·​count="0">
183423 ······​</​DisorderDisorderAssoc​iationList>183279 ······​</​DisorderDisorderAssoc​iationList>
183424 ······​<SummaryInformationLi​st·​count="1">183280 ······​<SummaryInformationLi​st·​count="0">
183425 ········<SummaryInformation·id="-​1"·lang="en">
183426 ··········<TextSectionList·count="0">
183427 ··········</​TextSectionList>
183428 ··········<TextAuto>
183429 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
183430 ··········</​TextAuto>
183431 ········</​SummaryInformation>
183432 ······​</​SummaryInformationLis​t>183281 ······​</​SummaryInformationLis​t>
183433 ····​</​Disorder>183282 ····​</​Disorder>
183434 ····​<Disorder·​id="2227">183283 ····​<Disorder·​id="2227">
183733 ······​</​ExternalReferenceList​>183582 ······​</​ExternalReferenceList​>
183734 ······​<DisorderDisorderAsso​ciationList·​count="0">183583 ······​<DisorderDisorderAsso​ciationList·​count="0">
183735 ······​</​DisorderDisorderAssoc​iationList>183584 ······​</​DisorderDisorderAssoc​iationList>
183736 ······​<SummaryInformationLi​st·​count="1">183585 ······​<SummaryInformationLi​st·​count="0">
183737 ········<SummaryInformation·id="-​1"·lang="en">
183738 ··········<TextSectionList·count="0">
183739 ··········</​TextSectionList>
183740 ··········<TextAuto>
183741 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
183742 ··········</​TextAuto>
183743 ········</​SummaryInformation>
183744 ······​</​SummaryInformationLis​t>183586 ······​</​SummaryInformationLis​t>
183745 ····​</​Disorder>183587 ····​</​Disorder>
183746 ····​<Disorder·​id="19574">183588 ····​<Disorder·​id="19574">
183765 ······​</​ExternalReferenceList​>183607 ······​</​ExternalReferenceList​>
183766 ······​<DisorderDisorderAsso​ciationList·​count="0">183608 ······​<DisorderDisorderAsso​ciationList·​count="0">
183767 ······​</​DisorderDisorderAssoc​iationList>183609 ······​</​DisorderDisorderAssoc​iationList>
183768 ······​<SummaryInformationLi​st·​count="1">183610 ······​<SummaryInformationLi​st·​count="0">
183769 ········<SummaryInformation·id="-​1"·lang="en">
183770 ··········<TextSectionList·count="0">
183771 ··········</​TextSectionList>
183772 ··········<TextAuto>
183773 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
183774 ··········</​TextAuto>
183775 ········</​SummaryInformation>
183776 ······​</​SummaryInformationLis​t>183611 ······​</​SummaryInformationLis​t>
183777 ····​</​Disorder>183612 ····​</​Disorder>
183778 ····​<Disorder·​id="19573">183613 ····​<Disorder·​id="19573">
190687 ······​</​ExternalReferenceList​>190522 ······​</​ExternalReferenceList​>
190688 ······​<DisorderDisorderAsso​ciationList·​count="0">190523 ······​<DisorderDisorderAsso​ciationList·​count="0">
190689 ······​</​DisorderDisorderAssoc​iationList>190524 ······​</​DisorderDisorderAssoc​iationList>
190690 ······​<SummaryInformationLi​st·​count="1">190525 ······​<SummaryInformationLi​st·​count="0">
190691 ········<SummaryInformation·id="-​1"·lang="en">
190692 ··········<TextSectionList·count="0">
190693 ··········</​TextSectionList>
190694 ··········<TextAuto>
190695 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
190696 ··········</​TextAuto>
190697 ········</​SummaryInformation>
190698 ······​</​SummaryInformationLis​t>190526 ······​</​SummaryInformationLis​t>
190699 ····​</​Disorder>190527 ····​</​Disorder>
190700 ····​<Disorder·​id="2071">190528 ····​<Disorder·​id="2071">
191117 ······​</​ExternalReferenceList​>190945 ······​</​ExternalReferenceList​>
191118 ······​<DisorderDisorderAsso​ciationList·​count="0">190946 ······​<DisorderDisorderAsso​ciationList·​count="0">
191119 ······​</​DisorderDisorderAssoc​iationList>190947 ······​</​DisorderDisorderAssoc​iationList>
191120 ······​<SummaryInformationLi​st·​count="1">190948 ······​<SummaryInformationLi​st·​count="0">
191121 ········<SummaryInformation·id="-​1"·lang="en">
191122 ··········<TextSectionList·count="0">
191123 ··········</​TextSectionList>
191124 ··········<TextAuto>
191125 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
191126 ··········</​TextAuto>
191127 ········</​SummaryInformation>
191128 ······​</​SummaryInformationLis​t>190949 ······​</​SummaryInformationLis​t>
191129 ····​</​Disorder>190950 ····​</​Disorder>
191130 ····​<Disorder·​id="19674">190951 ····​<Disorder·​id="19674">
191793 ······​</​ExternalReferenceList​>191614 ······​</​ExternalReferenceList​>
191794 ······​<DisorderDisorderAsso​ciationList·​count="0">191615 ······​<DisorderDisorderAsso​ciationList·​count="0">
191795 ······​</​DisorderDisorderAssoc​iationList>191616 ······​</​DisorderDisorderAssoc​iationList>
191796 ······​<SummaryInformationLi​st·​count="1">191617 ······​<SummaryInformationLi​st·​count="0">
191797 ········<SummaryInformation·id="-​1"·lang="en">
191798 ··········<TextSectionList·count="0">
191799 ··········</​TextSectionList>
191800 ··········<TextAuto>
191801 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
191802 ··········</​TextAuto>
191803 ········</​SummaryInformation>
191804 ······​</​SummaryInformationLis​t>191618 ······​</​SummaryInformationLis​t>
191805 ····​</​Disorder>191619 ····​</​Disorder>
191806 ····​<Disorder·​id="19648">191620 ····​<Disorder·​id="19648">
191825 ······​</​ExternalReferenceList​>191639 ······​</​ExternalReferenceList​>
191826 ······​<DisorderDisorderAsso​ciationList·​count="0">191640 ······​<DisorderDisorderAsso​ciationList·​count="0">
191827 ······​</​DisorderDisorderAssoc​iationList>191641 ······​</​DisorderDisorderAssoc​iationList>
191828 ······​<SummaryInformationLi​st·​count="1">191642 ······​<SummaryInformationLi​st·​count="0">
191829 ········<SummaryInformation·id="-​1"·lang="en">
191830 ··········<TextSectionList·count="0">
191831 ··········</​TextSectionList>
191832 ··········<TextAuto>
191833 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
191834 ··········</​TextAuto>
191835 ········</​SummaryInformation>
191836 ······​</​SummaryInformationLis​t>191643 ······​</​SummaryInformationLis​t>
191837 ····​</​Disorder>191644 ····​</​Disorder>
191838 ····​<Disorder·​id="2050">191645 ····​<Disorder·​id="2050">
192298 ······​</​ExternalReferenceList​>192105 ······​</​ExternalReferenceList​>
192299 ······​<DisorderDisorderAsso​ciationList·​count="0">192106 ······​<DisorderDisorderAsso​ciationList·​count="0">
192300 ······​</​DisorderDisorderAssoc​iationList>192107 ······​</​DisorderDisorderAssoc​iationList>
192301 ······​<SummaryInformationLi​st·​count="1">192108 ······​<SummaryInformationLi​st·​count="0">
192302 ········<SummaryInformation·id="-​1"·lang="en">
192303 ··········<TextSectionList·count="0">
192304 ··········</​TextSectionList>
192305 ··········<TextAuto>
192306 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
192307 ··········</​TextAuto>
192308 ········</​SummaryInformation>
192309 ······​</​SummaryInformationLis​t>192109 ······​</​SummaryInformationLis​t>
192310 ····​</​Disorder>192110 ····​</​Disorder>
192311 ····​<Disorder·​id="19652">192111 ····​<Disorder·​id="19652">
203650 ··············​<TextSectionType·​id="16907">203450 ··············​<TextSectionType·​id="16907">
203651 ················​<Name·​lang="en">Definition<​/​Name>203451 ················​<Name·​lang="en">Definition<​/​Name>
203652 ··············​</​TextSectionType>203452 ··············​</​TextSectionType>
203653 ··············​<Contents>Familial·hyperaldosteronism·type·III·(FH-​III)​·is·a·​rare·​heritable·​form·​of·​primary·​aldosteronism·​(PA)​·​that·​is·​characterized·​by·​early-​onset·​severe·​hypertension,​·​non·​glucocorticoid-​remediable·​hyperaldosteronism,​·​overproduction·​of·​18-​oxocortisol·​and·​18-​hydroxycortisol,​·​and·​profound·​hypokalemia.​</​Contents>203453 ··············​<Contents>A·​rare·​heritable·​form·​of·​primary·​aldosteronism·​(PA)​·​that·​is·​characterized·​by·​early-​onset·​severe·​hypertension,​·​non-​·​glucocorticoid-​remediable·​hyperaldosteronism,​·​overproduction·​of·​18-​oxocortisol·​and·​18-​hydroxycortisol,​·​and·​profound·​hypokalemia.​</​Contents>
203654 ············​</​TextSection>203454 ············​</​TextSection>
203655 ··········​</​TextSectionList>203455 ··········​</​TextSectionList>
203656 ········​</​SummaryInformation>203456 ········​</​SummaryInformation>
218025 ··········​</​DisorderDisorderAssoc​iationType>217825 ··········​</​DisorderDisorderAssoc​iationType>
218026 ········​</​DisorderDisorderAssoc​iation>217826 ········​</​DisorderDisorderAssoc​iation>
218027 ······​</​DisorderDisorderAssoc​iationList>217827 ······​</​DisorderDisorderAssoc​iationList>
218028 ······​<SummaryInformationLi​st·​count="1">217828 ······​<SummaryInformationLi​st·​count="0">
218029 ········<SummaryInformation·id="-​1"·lang="en">
218030 ··········<TextSectionList·count="0">
218031 ··········</​TextSectionList>
218032 ··········<TextAuto>
218033 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
218034 ··········</​TextAuto>
218035 ········</​SummaryInformation>
218036 ······​</​SummaryInformationLis​t>217829 ······​</​SummaryInformationLis​t>
218037 ····​</​Disorder>217830 ····​</​Disorder>
218038 ····​<Disorder·​id="2558">217831 ····​<Disorder·​id="2558">
218257 ······​</​ExternalReferenceList​>218050 ······​</​ExternalReferenceList​>
218258 ······​<DisorderDisorderAsso​ciationList·​count="0">218051 ······​<DisorderDisorderAsso​ciationList·​count="0">
218259 ······​</​DisorderDisorderAssoc​iationList>218052 ······​</​DisorderDisorderAssoc​iationList>
218260 ······​<SummaryInformationLi​st·​count="1">218053 ······​<SummaryInformationLi​st·​count="0">
218261 ········<SummaryInformation·id="-​1"·lang="en">
218262 ··········<TextSectionList·count="0">
218263 ··········</​TextSectionList>
218264 ··········<TextAuto>
218265 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
218266 ··········</​TextAuto>
218267 ········</​SummaryInformation>
218268 ······​</​SummaryInformationLis​t>218054 ······​</​SummaryInformationLis​t>
218269 ····​</​Disorder>218055 ····​</​Disorder>
218270 ····​<Disorder·​id="19769">218056 ····​<Disorder·​id="19769">
229971 ··············​<TextSectionType·​id="16907">229757 ··············​<TextSectionType·​id="16907">
229972 ················​<Name·​lang="en">Definition<​/​Name>229758 ················​<Name·​lang="en">Definition<​/​Name>
229973 ··············​</​TextSectionType>229759 ··············​</​TextSectionType>
229974 ··············​<Contents>A·​rare·​chromosomal·​anomaly·​syndrome,​·​resulting·​from·​the·​partial·​deletion·​of·​the·​long·​arm·​of·​chromosome·​22,​·​outside·​the·​DiGeorge·​critical·​region.​·​The·​phenotype·​is·​characterized·​by·​prematurity,​·​pre-​·​and·​post-​natal·​growth·​retardation,​·​developmental·​delay·​(particularly·​speech)​,​·​mild·​intellectual·​disability,​·​variable·​cardiac·​defects,​·​and·​minor·​skeletal·​anomalies·​(such·​as·​clinodactyly)​.​·​Dysmorphic·​features·​present·​in·​half·​of·​the·​individuals·​include·​microcephaly,​·​arched·​eyebrows,​·​deep·​set·​eyes,​·​narrow·​upslanting·​palpebral·​fissures,​·​ear·​abnormalities·​(low-​set·​ears,​·​tags·​and·​pits)​,​·​hypoplastic·​alae·​nasi,​·​smooth·​philtrum,​·​down-​turned·​mouth,​·​thin·​upper·​lip,​·​retro/​micrognatia·​and·​pointed·​chin.​·​For·​certain·​very·​distal·​deletions·​including·​the·​SMARCB1·​gene,​·​there·​is·​a·​risk·​of·​developing·​malignant·​rhabdoid·​tumours.​·​Most·​deletions·​are·​de·​novo.​</​Contents>229760 ··············​<Contents>A·​rare·​chromosomal·​anomaly·​syndrome,​·​resulting·​from·​the·​partial·​deletion·​of·​the·​long·​arm·​of·​chromosome·​22,​·​outside·​the·​DiGeorge·​critical·​region.​·​The·​phenotype·​is·​characterized·​by·​prematurity,​·​pre-​·​and·​post-​natal·​growth·​retardation,​·​developmental·​delay·​(particularly·​speech)​,​·​mild·​intellectual·​disability,​·​variable·​cardiac·​defects,​·​and·​minor·​skeletal·​anomalies·​(such·​as·​clinodactyly)​.​·​Dysmorphic·​features·​present·​in·​half·​of·​the·​individuals·​include·​microcephaly,​·​arched·​eyebrows,​·​deep·​set·​eyes,​·​narrow·​upslanting·​palpebral·​fissures,​·​ear·​abnormalities·​(low-​set·​ears,​·​tags·​and·​pits)​,​·​hypoplastic·​alae·​nasi,​·​smooth·​philtrum,​·​down-​turned·​mouth,​·​thin·​upper·​lip,​·​retro/​micrognatia·​and·​pointed·​chin.​·​For·​certain·​very·​distal·​deletions·​including·​the·&lt;​i&gt;​SMARCB1&lt;​/​i&gt;​·​gene,​·​there·​is·​a·​risk·​of·​developing·​malignant·​rhabdoid·​tumours.​·​Most·​deletions·​are·&lt;​i&gt;​de·​novo·&lt;​/​i&gt;​.​</​Contents>
229975 ············​</​TextSection>229761 ············​</​TextSection>
229976 ··········​</​TextSectionList>229762 ··········​</​TextSectionList>
229977 ········​</​SummaryInformation>229763 ········​</​SummaryInformation>
238987 ··············​<TextSectionType·​id="16907">238773 ··············​<TextSectionType·​id="16907">
238988 ················​<Name·​lang="en">Definition<​/​Name>238774 ················​<Name·​lang="en">Definition<​/​Name>
238989 ··············​</​TextSectionType>238775 ··············​</​TextSectionType>
238990 ··············​<Contents>Ulnar-​mammary·syndrome·(UMS)​·is·a·rare·developmental·disorder·characterized·by·​ulnar·​defects,​·​mammary·​and·​apocrine·​gland·​hypoplasia·​and·​genital·​anomalies.​·Delayed·puberty·​dental·​anomalies,​·short·stature·​and·​obesity·​have·​also·been·described.​</​Contents>238776 ··············​<Contents>A·rare·congenital·anomalies·​syndrome·characterized·by·a·variable·spectrum·of·​ulnar·​defects,​·​mammary·​and·​apocrine·​gland·​hypoplasia·​and·​genital·​anomalies.​·The·most·frequent·signs·include·fifth·finger·and·​dental·​anomalies,​·delayed·puberty·​and·mammary·hypoplasia.​·Short·stature·​and·obesity·are·common.​</​Contents>
238991 ············​</​TextSection>238777 ············​</​TextSection>
238992 ··········​</​TextSectionList>238778 ··········​</​TextSectionList>
238993 ········​</​SummaryInformation>238779 ········​</​SummaryInformation>
246497 ······​</​ExternalReferenceList​>246283 ······​</​ExternalReferenceList​>
246498 ······​<DisorderDisorderAsso​ciationList·​count="0">246284 ······​<DisorderDisorderAsso​ciationList·​count="0">
246499 ······​</​DisorderDisorderAssoc​iationList>246285 ······​</​DisorderDisorderAssoc​iationList>
246500 ······​<SummaryInformationLi​st·​count="1">246286 ······​<SummaryInformationLi​st·​count="0">
246501 ········<SummaryInformation·id="-​1"·lang="en">
246502 ··········<TextSectionList·count="0">
246503 ··········</​TextSectionList>
246504 ··········<TextAuto>
246505 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
246506 ··········</​TextAuto>
246507 ········</​SummaryInformation>
246508 ······​</​SummaryInformationLis​t>246287 ······​</​SummaryInformationLis​t>
246509 ····​</​Disorder>246288 ····​</​Disorder>
246510 ····​<Disorder·​id="20192">246289 ····​<Disorder·​id="20192">
248443 ······​</​ExternalReferenceList​>248222 ······​</​ExternalReferenceList​>
248444 ······​<DisorderDisorderAsso​ciationList·​count="0">248223 ······​<DisorderDisorderAsso​ciationList·​count="0">
248445 ······​</​DisorderDisorderAssoc​iationList>248224 ······​</​DisorderDisorderAssoc​iationList>
248446 ······​<SummaryInformationLi​st·​count="1">248225 ······​<SummaryInformationLi​st·​count="0">
248447 ········<SummaryInformation·id="-​1"·lang="en">
248448 ··········<TextSectionList·count="0">
248449 ··········</​TextSectionList>
248450 ··········<TextAuto>
248451 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
248452 ··········</​TextAuto>
248453 ········</​SummaryInformation>
248454 ······​</​SummaryInformationLis​t>248226 ······​</​SummaryInformationLis​t>
248455 ····​</​Disorder>248227 ····​</​Disorder>
248456 ····​<Disorder·​id="20188">248228 ····​<Disorder·​id="20188">
253435 ······​</​ExternalReferenceList​>253207 ······​</​ExternalReferenceList​>
253436 ······​<DisorderDisorderAsso​ciationList·​count="0">253208 ······​<DisorderDisorderAsso​ciationList·​count="0">
253437 ······​</​DisorderDisorderAssoc​iationList>253209 ······​</​DisorderDisorderAssoc​iationList>
253438 ······​<SummaryInformationLi​st·​count="1">253210 ······​<SummaryInformationLi​st·​count="0">
253439 ········<SummaryInformation·id="-​1"·lang="en">
253440 ··········<TextSectionList·count="0">
253441 ··········</​TextSectionList>
253442 ··········<TextAuto>
253443 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
253444 ··········</​TextAuto>
253445 ········</​SummaryInformation>
253446 ······​</​SummaryInformationLis​t>253211 ······​</​SummaryInformationLis​t>
253447 ····​</​Disorder>253212 ····​</​Disorder>
253448 ····​<Disorder·​id="20113">253213 ····​<Disorder·​id="20113">
255370 ······​</​ExternalReferenceList​>255135 ······​</​ExternalReferenceList​>
255371 ······​<DisorderDisorderAsso​ciationList·​count="0">255136 ······​<DisorderDisorderAsso​ciationList·​count="0">
255372 ······​</​DisorderDisorderAssoc​iationList>255137 ······​</​DisorderDisorderAssoc​iationList>
255373 ······​<SummaryInformationLi​st·​count="1">255138 ······​<SummaryInformationLi​st·​count="0">
255374 ········<SummaryInformation·id="-​1"·lang="en">
255375 ··········<TextSectionList·count="0">
255376 ··········</​TextSectionList>
255377 ··········<TextAuto>
255378 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
255379 ··········</​TextAuto>
255380 ········</​SummaryInformation>
255381 ······​</​SummaryInformationLis​t>255139 ······​</​SummaryInformationLis​t>
255382 ····​</​Disorder>255140 ····​</​Disorder>
255383 ····​<Disorder·​id="2634">255141 ····​<Disorder·​id="2634">
255477 ······​</​ExternalReferenceList​>255235 ······​</​ExternalReferenceList​>
255478 ······​<DisorderDisorderAsso​ciationList·​count="0">255236 ······​<DisorderDisorderAsso​ciationList·​count="0">
255479 ······​</​DisorderDisorderAssoc​iationList>255237 ······​</​DisorderDisorderAssoc​iationList>
255480 ······​<SummaryInformationLi​st·​count="1">255238 ······​<SummaryInformationLi​st·​count="0">
255481 ········<SummaryInformation·id="-​1"·lang="en">
255482 ··········<TextSectionList·count="0">
255483 ··········</​TextSectionList>
255484 ··········<TextAuto>
255485 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
255486 ··········</​TextAuto>
255487 ········</​SummaryInformation>
255488 ······​</​SummaryInformationLis​t>255239 ······​</​SummaryInformationLis​t>
255489 ····​</​Disorder>255240 ····​</​Disorder>
255490 ····​<Disorder·​id="2635">255241 ····​<Disorder·​id="2635">
255607 ······​</​ExternalReferenceList​>255358 ······​</​ExternalReferenceList​>
255608 ······​<DisorderDisorderAsso​ciationList·​count="0">255359 ······​<DisorderDisorderAsso​ciationList·​count="0">
255609 ······​</​DisorderDisorderAssoc​iationList>255360 ······​</​DisorderDisorderAssoc​iationList>
255610 ······​<SummaryInformationLi​st·​count="1">255361 ······​<SummaryInformationLi​st·​count="0">
255611 ········<SummaryInformation·id="-​1"·lang="en">
255612 ··········<TextSectionList·count="0">
255613 ··········</​TextSectionList>
255614 ··········<TextAuto>
255615 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
255616 ··········</​TextAuto>
255617 ········</​SummaryInformation>
255618 ······​</​SummaryInformationLis​t>255362 ······​</​SummaryInformationLis​t>
255619 ····​</​Disorder>255363 ····​</​Disorder>
255620 ····​<Disorder·​id="20109">255364 ····​<Disorder·​id="20109">
258742 ······​</​ExternalReferenceList​>258486 ······​</​ExternalReferenceList​>
258743 ······​<DisorderDisorderAsso​ciationList·​count="0">258487 ······​<DisorderDisorderAsso​ciationList·​count="0">
258744 ······​</​DisorderDisorderAssoc​iationList>258488 ······​</​DisorderDisorderAssoc​iationList>
258745 ······​<SummaryInformationLi​st·​count="1">258489 ······​<SummaryInformationLi​st·​count="0">
258746 ········<SummaryInformation·id="-​1"·lang="en">
258747 ··········<TextSectionList·count="0">
258748 ··········</​TextSectionList>
258749 ··········<TextAuto>
258750 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
258751 ··········</​TextAuto>
258752 ········</​SummaryInformation>
258753 ······​</​SummaryInformationLis​t>258490 ······​</​SummaryInformationLis​t>
258754 ····​</​Disorder>258491 ····​</​Disorder>
258755 ····​<Disorder·​id="20346">258492 ····​<Disorder·​id="20346">
288696 ······​</​ExternalReferenceList​>288433 ······​</​ExternalReferenceList​>
288697 ······​<DisorderDisorderAsso​ciationList·​count="0">288434 ······​<DisorderDisorderAsso​ciationList·​count="0">
288698 ······​</​DisorderDisorderAssoc​iationList>288435 ······​</​DisorderDisorderAssoc​iationList>
288699 ······​<SummaryInformationLi​st·​count="1">288436 ······​<SummaryInformationLi​st·​count="0">
288700 ········<SummaryInformation·id="-​1"·lang="en">
288701 ··········<TextSectionList·count="0">
288702 ··········</​TextSectionList>
288703 ··········<TextAuto>
288704 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
288705 ··········</​TextAuto>
288706 ········</​SummaryInformation>
288707 ······​</​SummaryInformationLis​t>288437 ······​</​SummaryInformationLis​t>
288708 ····​</​Disorder>288438 ····​</​Disorder>
288709 ····​<Disorder·​id="18541">288439 ····​<Disorder·​id="18541">
289124 ··············​<TextSectionType·​id="16907">288854 ··············​<TextSectionType·​id="16907">
289125 ················​<Name·​lang="en">Definition<​/​Name>288855 ················​<Name·​lang="en">Definition<​/​Name>
289126 ··············​</​TextSectionType>288856 ··············​</​TextSectionType>
289127 ··············​<Contents>Bardet-​Biedl·​syndrome·(BBS)​·​is·​a·ciliopathy·​with·multisystem·involvement.​</​Contents>288857 ··············​<Contents>A·rare·genetic·multisystem·disorder·characterized·by·the·variable·association·of·retinal·dystrophy,​·obesity,​·polydactyly,​·genitourinary·and·kidney·anomalies,​·learning·disability·and·hypogonadism,​·​with·a·wide·spectrum·of·other·minor·manifestations.​</​Contents>
289128 ············​</​TextSection>288858 ············​</​TextSection>
289129 ··········​</​TextSectionList>288859 ··········​</​TextSectionList>
289130 ········​</​SummaryInformation>288860 ········​</​SummaryInformation>
304669 ······​</​ExternalReferenceList​>304399 ······​</​ExternalReferenceList​>
304670 ······​<DisorderDisorderAsso​ciationList·​count="0">304400 ······​<DisorderDisorderAsso​ciationList·​count="0">
304671 ······​</​DisorderDisorderAssoc​iationList>304401 ······​</​DisorderDisorderAssoc​iationList>
304672 ······​<SummaryInformationLi​st·​count="1">304402 ······​<SummaryInformationLi​st·​count="0">
304673 ········<SummaryInformation·id="-​1"·lang="en">
304674 ··········<TextSectionList·count="0">
304675 ··········</​TextSectionList>
304676 ··········<TextAuto>
304677 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
304678 ··········</​TextAuto>
304679 ········</​SummaryInformation>
304680 ······​</​SummaryInformationLis​t>304403 ······​</​SummaryInformationLis​t>
304681 ····​</​Disorder>304404 ····​</​Disorder>
304682 ····​<Disorder·​id="3572">304405 ····​<Disorder·​id="3572">
305821 ······​</​ExternalReferenceList​>305544 ······​</​ExternalReferenceList​>
305822 ······​<DisorderDisorderAsso​ciationList·​count="0">305545 ······​<DisorderDisorderAsso​ciationList·​count="0">
305823 ······​</​DisorderDisorderAssoc​iationList>305546 ······​</​DisorderDisorderAssoc​iationList>
305824 ······​<SummaryInformationLi​st·​count="1">305547 ······​<SummaryInformationLi​st·​count="0">
305825 ········<SummaryInformation·id="-​1"·lang="en">
305826 ··········<TextSectionList·count="0">
305827 ··········</​TextSectionList>
305828 ··········<TextAuto>
305829 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
305830 ··········</​TextAuto>
305831 ········</​SummaryInformation>
305832 ······​</​SummaryInformationLis​t>305548 ······​</​SummaryInformationLis​t>
305833 ····​</​Disorder>305549 ····​</​Disorder>
305834 ····​<Disorder·​id="3577">305550 ····​<Disorder·​id="3577">
314367 ······​</​ExternalReferenceList​>314083 ······​</​ExternalReferenceList​>
314368 ······​<DisorderDisorderAsso​ciationList·​count="0">314084 ······​<DisorderDisorderAsso​ciationList·​count="0">
314369 ······​</​DisorderDisorderAssoc​iationList>314085 ······​</​DisorderDisorderAssoc​iationList>
314370 ······​<SummaryInformationLi​st·​count="1">314086 ······​<SummaryInformationLi​st·​count="0">
314371 ········<SummaryInformation·id="-​1"·lang="en">
314372 ··········<TextSectionList·count="0">
314373 ··········</​TextSectionList>
314374 ··········<TextAuto>
314375 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
314376 ··········</​TextAuto>
314377 ········</​SummaryInformation>
314378 ······​</​SummaryInformationLis​t>314087 ······​</​SummaryInformationLis​t>
314379 ····​</​Disorder>314088 ····​</​Disorder>
314380 ····​<Disorder·​id="3399">314089 ····​<Disorder·​id="3399">
319490 ······​</​ExternalReferenceList​>319199 ······​</​ExternalReferenceList​>
319491 ······​<DisorderDisorderAsso​ciationList·​count="0">319200 ······​<DisorderDisorderAsso​ciationList·​count="0">
319492 ······​</​DisorderDisorderAssoc​iationList>319201 ······​</​DisorderDisorderAssoc​iationList>
319493 ······​<SummaryInformationLi​st·​count="1">319202 ······​<SummaryInformationLi​st·​count="0">
319494 ········<SummaryInformation·id="-​1"·lang="en">
319495 ··········<TextSectionList·count="0">
319496 ··········</​TextSectionList>
319497 ··········<TextAuto>
319498 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
319499 ··········</​TextAuto>
319500 ········</​SummaryInformation>
319501 ······​</​SummaryInformationLis​t>319203 ······​</​SummaryInformationLis​t>
319502 ····​</​Disorder>319204 ····​</​Disorder>
319503 ····​<Disorder·​id="3441">319205 ····​<Disorder·​id="3441">
329777 ······​<DisorderGroup·​id="36547">329479 ······​<DisorderGroup·​id="36547">
329778 ········​<Name·​lang="en">Disorder</​Name>329480 ········​<Name·​lang="en">Disorder</​Name>
329779 ······​</​DisorderGroup>329481 ······​</​DisorderGroup>
329780 ······​<ExternalReferenceLis​t·​count="11">329482 ······​<ExternalReferenceLis​t·​count="12">
329781 ········​<ExternalReference·​id="145480">329483 ········​<ExternalReference·​id="145480">
329782 ··········​<Source>GARD</​Source>329484 ··········​<Source>GARD</​Source>
329783 ··········​<Reference>4894</​Reference>329485 ··········​<Reference>4894</​Reference>
329811 ············​<Name·​lang="en">Validated</​Name>329513 ············​<Name·​lang="en">Validated</​Name>
329812 ··········​</​DisorderMappingValida​tionStatus>329514 ··········​</​DisorderMappingValida​tionStatus>
329813 ········​</​ExternalReference>329515 ········​</​ExternalReference>
329516 ········​<ExternalReference·​id="200334">
329517 ··········​<Source>ICD-​10</​Source>
329518 ··········​<Reference>C91.​8</​Reference>
329519 ··········​<DisorderMappingRelat​ion·​id="21541">
329520 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
329521 ··········​</​DisorderMappingRelati​on>
329522 ··········​<DisorderMappingICDRe​lation·​id="21583">
329523 ············​<Name·​lang="en">Specific·​code·​(The·​ORPHA·​code·​has·​its·​own·​code·​in·​the·​ICD10)​</​Name>
329524 ··········​</​DisorderMappingICDRel​ation>
329525 ··········​<DisorderMappingValid​ationStatus·​id="21611">
329526 ············​<Name·​lang="en">Validated</​Name>
329527 ··········​</​DisorderMappingValida​tionStatus>
329528 ········​</​ExternalReference>
329814 ········​<ExternalReference·​id="112356">329529 ········​<ExternalReference·​id="112356">
329815 ··········​<Source>MedDRA</​Source>329530 ··········​<Source>MedDRA</​Source>
329816 ··········​<Reference>10006595</​Reference>329531 ··········​<Reference>10006595</​Reference>
329844 ············​<Name·​lang="en">Validated</​Name>329559 ············​<Name·​lang="en">Validated</​Name>
329845 ··········​</​DisorderMappingValida​tionStatus>329560 ··········​</​DisorderMappingValida​tionStatus>
329846 ········​</​ExternalReference>329561 ········​</​ExternalReference>
329847 ········​<ExternalReference·​id="112364">329562 ········​<ExternalReference·​id="200335">
329848 ··········​<Source>ICD-​10</​Source>329563 ··········​<Source>ICD-​10</​Source>
329849 ··········​<Reference>C83.​7</​Reference>329564 ··········​<Reference>C83.​7</​Reference>
329850 ··········​<DisorderMappingRelat​ion·​id="21527">329565 ··········​<DisorderMappingRelat​ion·​id="21541">
329851 ············​<Name·​lang="en">E·​(Exact·mapping:​·the·two·concepts·​are·equivalent)​</​Name>329566 ············​<Name·​lang="en">BTNT·​(ORPHA·code's·Broader·Term·maps·to·​a·Narrower·Term)​</​Name>
329852 ··········​</​DisorderMappingRelati​on>329567 ··········​</​DisorderMappingRelati​on>
329853 ··········​<DisorderMappingICDRe​lation·​id="21583">329568 ··········​<DisorderMappingICDRe​lation·​id="21583">
329854 ············​<Name·​lang="en">Specific·​code·​(The·​ORPHA·​code·​has·​its·​own·​code·​in·​the·​ICD10)​</​Name>329569 ············​<Name·​lang="en">Specific·​code·​(The·​ORPHA·​code·​has·​its·​own·​code·​in·​the·​ICD10)​</​Name>
330762 ··········​</​DisorderMappingValida​tionStatus>330477 ··········​</​DisorderMappingValida​tionStatus>
330763 ········​</​ExternalReference>330478 ········​</​ExternalReference>
330764 ······​</​ExternalReferenceList​>330479 ······​</​ExternalReferenceList​>
330765 ······​<DisorderDisorderAsso​ciationList·​count="0">330480 ······​<DisorderDisorderAsso​ciationList·​count="1">
330481 ········​<DisorderDisorderAsso​ciation>
330482 ··········​<TargetDisorder·​id="19029"·​cycle="true"/​>
330483 ··········​<RootDisorder·​id="19034">
330484 ············​<OrphaCode>226310</​OrphaCode>
330485 ············​<Name·​lang="en">OBSOLETE:​·​Peripheral·​hypothyroidism</​Name>
330486 ··········​</​RootDisorder>
330487 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
330488 ············​<Name·​lang="en">Referred·​to</​Name>
330489 ··········​</​DisorderDisorderAssoc​iationType>
330490 ········​</​DisorderDisorderAssoc​iation>
330766 ······​</​DisorderDisorderAssoc​iationList>330491 ······​</​DisorderDisorderAssoc​iationList>
330767 ······​<SummaryInformationLi​st·​count="1">330492 ······​<SummaryInformationLi​st·​count="1">
330768 ········​<SummaryInformation·​id="60356"·​lang="en">330493 ········​<SummaryInformation·​id="60356"·​lang="en">
332008 ··········​<Value>8192</​Value>331733 ··········​<Value>8192</​Value>
332009 ··········​<Label>Inactive</​Label>331734 ··········​<Label>Inactive</​Label>
332010 ········​</​DisorderFlag>331735 ········​</​DisorderFlag>
332011 ········​<DisorderFlag·​id="461">331736 ········​<DisorderFlag·​id="455">
332012 ··········​<Value>1024</​Value>331737 ··········​<Value>16</​Value>
332013 ··········​<Label>Obsolete·with·resources</​Label>331738 ··········​<Label>Obsolete·​entity</​Label>
332014 ········​</​DisorderFlag>331739 ········​</​DisorderFlag>
332015 ······​</​DisorderFlagList>331740 ······​</​DisorderFlagList>
332016 ······​<SynonymList·​count="0">331741 ······​<SynonymList·​count="0">
332023 ······​</​DisorderGroup>331748 ······​</​DisorderGroup>
332024 ······​<ExternalReferenceLis​t·​count="0">331749 ······​<ExternalReferenceLis​t·​count="0">
332025 ······​</​ExternalReferenceList​>331750 ······​</​ExternalReferenceList​>
332026 ······​<DisorderDisorderAsso​ciationList·​count="0">331751 ······​<DisorderDisorderAsso​ciationList·​count="1">
331752 ········​<DisorderDisorderAsso​ciation>
331753 ··········​<TargetDisorder·​id="19029">
331754 ············​<OrphaCode>226292</​OrphaCode>
331755 ············​<Name·​lang="en">Permanent·​congenital·​hypothyroidism</​Name>
331756 ··········​</​TargetDisorder>
331757 ··········​<RootDisorder·​id="19034"·​cycle="true"/​>
331758 ··········​<DisorderDisorderAsso​ciationType·​id="27341">
331759 ············​<Name·​lang="en">Referred·​to</​Name>
331760 ··········​</​DisorderDisorderAssoc​iationType>
331761 ········​</​DisorderDisorderAssoc​iation>
332027 ······​</​DisorderDisorderAssoc​iationList>331762 ······​</​DisorderDisorderAssoc​iationList>
332028 ······​<SummaryInformationLi​st·​count="0">331763 ······​<SummaryInformationLi​st·​count="1">
331764 ········​<SummaryInformation·​id="-​1"·​lang="en">
331765 ··········​<TextSectionList·​count="0">
331766 ··········​</​TextSectionList>
331767 ··········​<TextAuto>
331768 ············​<Info·​lang="en">This·​entity·​has·​been·​obsoleted·​from·​the·​Orphanet·​nomenclature·​of·​rare·​diseases.​&lt;​br/​&gt;​&lt;​br/​&gt;​This·​term·​does·​not·​characterize·​a·​disease·​but·​a·​group·​of·​diseases.​·​To·​learn·​about·​the·​diseases·​included·​under·​this·​term,​·​you·​can·​consult·​the·​classifications.​&lt;​br/​&gt;​&lt;​br/​&gt;​Instead,​·​consider·​using··​Permanent·​congenital·​hypothyroidism</​Info>
331769 ··········​</​TextAuto>
331770 ········​</​SummaryInformation>
332029 ······​</​SummaryInformationLis​t>331771 ······​</​SummaryInformationLis​t>
332030 ····​</​Disorder>331772 ····​</​Disorder>
332031 ····​<Disorder·​id="3739">331773 ····​<Disorder·​id="3739">
336841 ··············​<TextSectionType·​id="16907">336583 ··············​<TextSectionType·​id="16907">
336842 ················​<Name·​lang="en">Definition<​/​Name>336584 ················​<Name·​lang="en">Definition<​/​Name>
336843 ··············​</​TextSectionType>336585 ··············​</​TextSectionType>
336844 ··············​<Contents>An·​extremely·​rare,​·​acquired,​·​dermis·​elastic·​tissue·​disorder·​characterized·​by·​localized·​increased·​skin·​laxity·​associated·​with·​delayed·​skin·​recoil,​·​typically·​ocurring·​on·​the·​elbows,​·​knees·​and/​or·​neck.​·​Histologically,​·​focal·​abundace·​of·​elastic·​tissue·​in·​the·​dermis·​with·​pleomorphic·​and·​fragmented·​elastic·​fibers,​·​without·​calcification,​·​is·​observed.​</​Contents>336586 ··············​<Contents>An·​extremely·​rare,​·​acquired,​·​dermis·​elastic·​tissue·​disorder·​characterized·​by·​localized·​increased·​skin·​laxity·​associated·​with·​delayed·​skin·​recoil,​·​typically·​occurring·​on·​the·​elbows,​·​knees·​and/​or·​neck.​·​Histologically,​·​focal·​abundace·​of·​elastic·​tissue·​in·​the·​dermis·​with·​pleomorphic·​and·​fragmented·​elastic·​fibers,​·​without·​calcification,​·​is·​observed.​</​Contents>
336845 ············​</​TextSection>336587 ············​</​TextSection>
336846 ··········​</​TextSectionList>336588 ··········​</​TextSectionList>
336847 ········​</​SummaryInformation>336589 ········​</​SummaryInformation>
343509 ··············​<TextSectionType·​id="16907">343251 ··············​<TextSectionType·​id="16907">
343510 ················​<Name·​lang="en">Definition<​/​Name>343252 ················​<Name·​lang="en">Definition<​/​Name>
343511 ··············​</​TextSectionType>343253 ··············​</​TextSectionType>
343512 ··············​<Contents>A·​rare,​·​systemic·​disease·​with·​skin·​involvement·​characterized·​by·​the·​onset·​of·​idiopathic·​lupus·​erythematosus-​like·​signs·​and·​symptoms·​resulting·​from·​continuous·​drug·​intake·​(&gt;​1·​month)​,​·​which·​resolve·​when·​treatment·​is·​discontinued,​·​in·​persons·​with·​no·​history·​of·​autoimmune·​disease.​·​Manifestations·​are·​variable·​and·​may·​be·​systemic·​(e.​g.​·​arthralgia,​·​myalgia,​·​fever,​·​fatigue,​·​serositis,​·​pleuritis,​·​pericarditis)​,​·​subacute·​cutaneous·​(incl.​·​photosensitive,​·​non-​scarring,​·​annular,​·​polycyclic·​or·​papulosquamous·​lesions,​·​malar·​erythema,​·​vasculitis,​·​bullous·​lesions,​·​erythema·​multiforme-​like·​changes)​,​·​and/​or·​chronic·​cutaneous·​(typically·​discoid·​lesions·​in·​sun-​exposed·​areas)​.​·​Procainamide·​and·​hydrazaline·​are·​the·​drugs·​most·​frequently·​implicated.​</​Contents>343254 ··············​<Contents>A·​rare,​·​systemic·​disease·​with·​skin·​involvement·​characterized·​by·​the·​onset·​of·​idiopathic·​lupus·​erythematosus-​like·​signs·​and·​symptoms·​resulting·​from·​continuous·​drug·​intake·​(&gt;​1·​month)​,​·​which·​resolve·​when·​treatment·​is·​discontinued,​·​in·​persons·​with·​no·​history·​of·​autoimmune·​disease.​·​Manifestations·​are·​variable·​and·​may·​be·​systemic·​(e.​g.​·​arthralgia,​·​myalgia,​·​fever,​·​fatigue,​·​serositis,​·​pleuritis,​·​pericarditis)​,​·​subacute·​cutaneous·​(incl.​·​photosensitive,​·​non-​scarring,​·​annular,​·​polycyclic·​or·​papulosquamous·​lesions,​·​malar·​erythema,​·​vasculitis,​·​bullous·​lesions,​·​erythema·​multiforme-​like·​changes)​,​·​and/​or·​chronic·​cutaneous·​(typically·​discoid·​lesions·​in·​sun-​exposed·​areas)​.​·​Procainamide·​and·​hydralazine·​are·​the·​drugs·​most·​frequently·​implicated.​</​Contents>
343513 ············​</​TextSection>343255 ············​</​TextSection>
343514 ··········​</​TextSectionList>343256 ··········​</​TextSectionList>
343515 ········​</​SummaryInformation>343257 ········​</​SummaryInformation>
347481 ······​</​ExternalReferenceList​>347223 ······​</​ExternalReferenceList​>
347482 ······​<DisorderDisorderAsso​ciationList·​count="0">347224 ······​<DisorderDisorderAsso​ciationList·​count="0">
347483 ······​</​DisorderDisorderAssoc​iationList>347225 ······​</​DisorderDisorderAssoc​iationList>
347484 ······​<SummaryInformationLi​st·​count="1">347226 ······​<SummaryInformationLi​st·​count="0">
347485 ········<SummaryInformation·id="-​1"·lang="en">
347486 ··········<TextSectionList·count="0">
347487 ··········</​TextSectionList>
347488 ··········<TextAuto>
347489 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
347490 ··········</​TextAuto>
347491 ········</​SummaryInformation>
347492 ······​</​SummaryInformationLis​t>347227 ······​</​SummaryInformationLis​t>
347493 ····​</​Disorder>347228 ····​</​Disorder>
347494 ····​<Disorder·​id="19297">347229 ····​<Disorder·​id="19297">
347526 ······​</​ExternalReferenceList​>347261 ······​</​ExternalReferenceList​>
347527 ······​<DisorderDisorderAsso​ciationList·​count="0">347262 ······​<DisorderDisorderAsso​ciationList·​count="0">
347528 ······​</​DisorderDisorderAssoc​iationList>347263 ······​</​DisorderDisorderAssoc​iationList>
347529 ······​<SummaryInformationLi​st·​count="1">347264 ······​<SummaryInformationLi​st·​count="0">
347530 ········<SummaryInformation·id="-​1"·lang="en">
347531 ··········<TextSectionList·count="0">
347532 ··········</​TextSectionList>
347533 ··········<TextAuto>
347534 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
347535 ··········</​TextAuto>
347536 ········</​SummaryInformation>
347537 ······​</​SummaryInformationLis​t>347265 ······​</​SummaryInformationLis​t>
347538 ····​</​Disorder>347266 ····​</​Disorder>
347539 ····​<Disorder·​id="19298">347267 ····​<Disorder·​id="19298">
350517 ······​</​ExternalReferenceList​>350245 ······​</​ExternalReferenceList​>
350518 ······​<DisorderDisorderAsso​ciationList·​count="0">350246 ······​<DisorderDisorderAsso​ciationList·​count="0">
350519 ······​</​DisorderDisorderAssoc​iationList>350247 ······​</​DisorderDisorderAssoc​iationList>
350520 ······​<SummaryInformationLi​st·​count="1">350248 ······​<SummaryInformationLi​st·​count="0">
350521 ········<SummaryInformation·id="-​1"·lang="en">
350522 ··········<TextSectionList·count="0">
350523 ··········</​TextSectionList>
350524 ··········<TextAuto>
350525 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
350526 ··········</​TextAuto>
350527 ········</​SummaryInformation>
350528 ······​</​SummaryInformationLis​t>350249 ······​</​SummaryInformationLis​t>
350529 ····​</​Disorder>350250 ····​</​Disorder>
350530 ····​<Disorder·​id="21992">350251 ····​<Disorder·​id="21992">
351158 ··········​<Label></​Label>350879 ··········​<Label></​Label>
351159 ········​</​DisorderFlag>350880 ········​</​DisorderFlag>
351160 ······​</​DisorderFlagList>350881 ······​</​DisorderFlagList>
351161 ······​<SynonymList·​count="5">350882 ······​<SynonymList·​count="4">
351162 ········​<Synonym·​lang="en">ATTRwt·​amyloidosis</​Synonym>350883 ········​<Synonym·​lang="en">ATTRwt·​amyloidosis</​Synonym>
351163 ········​<Synonym·​lang="en">ATTRwt-​related·​amyloidosis</​Synonym>350884 ········​<Synonym·​lang="en">ATTRwt-​related·​amyloidosis</​Synonym>
351164 ········​<Synonym·​lang="en">SSA</​Synonym>
351165 ········​<Synonym·​lang="en">Senile·​systemic·​amyloidosis</​Synonym>350885 ········​<Synonym·​lang="en">Senile·​systemic·​amyloidosis</​Synonym>
351166 ········​<Synonym·​lang="en">Wild·​type·​ATTR-​related·​amyloidosis</​Synonym>350886 ········​<Synonym·​lang="en">Wild·​type·​ATTR-​related·​amyloidosis</​Synonym>
351167 ······​</​SynonymList>350887 ······​</​SynonymList>
351195 ··············​<TextSectionType·​id="16907">350915 ··············​<TextSectionType·​id="16907">
351196 ················​<Name·​lang="en">Definition<​/​Name>350916 ················​<Name·​lang="en">Definition<​/​Name>
351197 ··············​</​TextSectionType>350917 ··············​</​TextSectionType>
351198 ··············​<Contents>A·​rare·​systemic·​amyloidosis·​characterized·​by·combination·​of·various·symptoms,​·depending·on·​the·organ·involved.​·Common·clinical·features·are·cardiac·failure,​·cardiac·conduction·anomalies·or·arrhythmia,​·renal·dysfunction,​·carpal·​tunnel·​syndrome·and·spinal·canal·stenosis.​·Histology·reveals·fibrillary·amyloid·deposition·of·wild·type·transthyretin·mostly·in·the·kidneys,​·heart,​·gastrointestinal·tract,​·skin·​and·​tenosynovial·tissue.​</​Contents>350918 ··············​<Contents>A·common·form·of·​systemic·​amyloidosis·​characterized·​by·deposition·​of·wild·​type·​transthyretin·predominantly·in·​the·heart·​and·​the·​soft·tissues·(mainly·the·carpal·​tunnel·​region,​·lumbar·canal·​and·​tendons)​.​</​Contents>
351199 ············​</​TextSection>350919 ············​</​TextSection>
351200 ··········​</​TextSectionList>350920 ··········​</​TextSectionList>
351201 ········​</​SummaryInformation>350921 ········​</​SummaryInformation>
351476 ······​</​ExternalReferenceList​>351196 ······​</​ExternalReferenceList​>
351477 ······​<DisorderDisorderAsso​ciationList·​count="0">351197 ······​<DisorderDisorderAsso​ciationList·​count="0">
351478 ······​</​DisorderDisorderAssoc​iationList>351198 ······​</​DisorderDisorderAssoc​iationList>
351479 ······​<SummaryInformationLi​st·​count="1">351199 ······​<SummaryInformationLi​st·​count="0">
351480 ········<SummaryInformation·id="-​1"·lang="en">
351481 ··········<TextSectionList·count="0">
351482 ··········</​TextSectionList>
351483 ··········<TextAuto>
351484 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
351485 ··········</​TextAuto>
351486 ········</​SummaryInformation>
351487 ······​</​SummaryInformationLis​t>351200 ······​</​SummaryInformationLis​t>
351488 ····​</​Disorder>351201 ····​</​Disorder>
351489 ····​<Disorder·​id="21957">351202 ····​<Disorder·​id="21957">
352761 ······​</​ExternalReferenceList​>352474 ······​</​ExternalReferenceList​>
352762 ······​<DisorderDisorderAsso​ciationList·​count="0">352475 ······​<DisorderDisorderAsso​ciationList·​count="0">
352763 ······​</​DisorderDisorderAssoc​iationList>352476 ······​</​DisorderDisorderAssoc​iationList>
352764 ······​<SummaryInformationLi​st·​count="1">352477 ······​<SummaryInformationLi​st·​count="0">
352765 ········<SummaryInformation·id="-​1"·lang="en">
352766 ··········<TextSectionList·count="0">
352767 ··········</​TextSectionList>
352768 ··········<TextAuto>
352769 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
352770 ··········</​TextAuto>
352771 ········</​SummaryInformation>
352772 ······​</​SummaryInformationLis​t>352478 ······​</​SummaryInformationLis​t>
352773 ····​</​Disorder>352479 ····​</​Disorder>
352774 ····​<Disorder·​id="21947">352480 ····​<Disorder·​id="21947">
354142 ··············​<TextSectionType·​id="16907">353848 ··············​<TextSectionType·​id="16907">
354143 ················​<Name·​lang="en">Definition<​/​Name>353849 ················​<Name·​lang="en">Definition<​/​Name>
354144 ··············​</​TextSectionType>353850 ··············​</​TextSectionType>
354145 ··············​<Contents>Congenital·​muscular·​dystrophy·​with·​intellectual·​disability·​and·​severe·​epilepsy·​is·​a·​rare,​·​fatal,​·​inborn·​error·​of·​metabolism·​disorder·​characterized·​by·​respiratory·​distress·​and·​severe·​hypotonia·​at·​birth,​·​severe·​global·​developmental·​delay,​·​early-​onset·​intractable·​seizures,​·​myopathic·​fascies·​with·​craniofacial·​dysmorphism·​(trigonocephaly/​progressive·​microcephaly,​·​low·​anterior·​hairline,​·​arched·​eyebrows,​·​hypotelorism,​·​strabismus,​·​small·​nose,​·​prominent·​philtrum,​·​thin·​upper·​lip,​·​high-​arched·​palate,​·​micrognathia,​·​malocclusion)​,​·​severe,​·​congenital·​flexion·​joint·​contractures·​and·​elevated·​serum·​creatine·​kinase·​levels.​·​Scoliosis,​·​optic·​atrophy,​·​mild·​hepatomegaly,​·​and·​hypoplastic·​genitalia·​may·​also·​be·​associated.​</​Contents>353851 ··············​<Contents>Congenital·​muscular·​dystrophy·​with·​intellectual·​disability·​and·​severe·​epilepsy·​is·​a·​rare,​·​fatal,​·​inborn·​error·​of·​metabolism·​disorder·​characterized·​by·​respiratory·​distress·​and·​severe·​hypotonia·​at·​birth,​·​severe·​global·​developmental·​delay,​·​early-​onset·​intractable·​seizures,​·​myopathic·​facies·​with·​craniofacial·​dysmorphism·​(trigonocephaly/​progressive·​microcephaly,​·​low·​anterior·​hairline,​·​arched·​eyebrows,​·​hypotelorism,​·​strabismus,​·​small·​nose,​·​prominent·​philtrum,​·​thin·​upper·​lip,​·​high-​arched·​palate,​·​micrognathia,​·​malocclusion)​,​·​severe,​·​congenital·​flexion·​joint·​contractures·​and·​elevated·​serum·​creatine·​kinase·​levels.​·​Scoliosis,​·​optic·​atrophy,​·​mild·​hepatomegaly,​·​and·​hypoplastic·​genitalia·​may·​also·​be·​associated.​</​Contents>
354146 ············​</​TextSection>353852 ············​</​TextSection>
354147 ··········​</​TextSectionList>353853 ··········​</​TextSectionList>
354148 ········​</​SummaryInformation>353854 ········​</​SummaryInformation>
355425 ··············​<TextSectionType·​id="16907">355131 ··············​<TextSectionType·​id="16907">
355426 ················​<Name·​lang="en">Definition<​/​Name>355132 ················​<Name·​lang="en">Definition<​/​Name>
355427 ··············​</​TextSectionType>355133 ··············​</​TextSectionType>
355428 ··············​<Contents>A·​rare·​46,​XY·​disorder·​of·​gonadal·​development·​characterized·​by·​congenital·​complete·​absence·​of·​testicular·​tissue·​in·​an·​individual·​with·​an·​otherwise·​normal·​male·​phenotype·​and·​normal·​karyotype.​·​In·​addition,​·​a·​small·​penis·​is·​a·​frequent·​finding·​in·​anorchid·​patients.​·​Typical·​hormonal·​characteristics·​are·​elevated·​basal·​levels·​of·​gonadotropins·​(especially·​FSH)​,​·​low·​concentration·​of·​testosterone,​·​and·​lack·​of·​increase·​of·​plasma·​testosterone·​in·​response·​to·​hCG·​administration.​·​The·​GnRH·​test·​induces·​a·​prolonged·​increase·​in·​FSH·​and·​LH·​levels.​</​Contents>355134 ··············​<Contents>A·​rare·​46,​XY·​disorder·​of·​gonadal·​development·​characterized·​by·​congenital·​complete·​absence·​of·​testicular·​tissue·​in·​an·​individual·​with·​an·​otherwise·​normal·​male·​phenotype·​and·​normal·​karyotype.​·​In·​addition,​·​a·​small·​penis·​is·​a·​frequent·​finding·​in·​anorchid·​patients.​·​Typical·​hormonal·​characteristics·​are·​elevated·​basal·​levels·​of·​gonadotropins·​(especially·​FSH)​,​·​low·​concentration·​of·​testosterone,​·​and·​lack·​of·​increase·​of·​plasma·​testosterone·​in·​response·​to·​hCG·​administration.​·​The·​GnRH·stimulation·​test·​induces·​a·​prolonged·​increase·​in·​FSH·​and·​LH·​levels.​</​Contents>
355429 ············​</​TextSection>355135 ············​</​TextSection>
355430 ··········​</​TextSectionList>355136 ··········​</​TextSectionList>
355431 ········​</​SummaryInformation>355137 ········​</​SummaryInformation>
356531 ··············​<TextSectionType·​id="16907">356237 ··············​<TextSectionType·​id="16907">
356532 ················​<Name·​lang="en">Definition<​/​Name>356238 ················​<Name·​lang="en">Definition<​/​Name>
356533 ··············​</​TextSectionType>356239 ··············​</​TextSectionType>
356534 ··············​<Contents>Mixed·​autoinflammatory·​and·​autoimmune·​syndrome·​is·​a·​group·​of·​systemic·​diseases·​characterized·​by·​mixed·​patterns·​of·​dysregulated·​innate·​and/​or·​adaptive·​immune·​responses,​·​leading·​to·​chronic·​activation·​of·​the·​immune·​system·​and·​tissue·​inflammation,​·​which·​presents·​clincially·​with·​a·​wide·​range·​of·​variable,​·​concomitant,​·​autoimmune·​and·​autoinflammatory·​manifestations·​in·​various·​organ·​systems.​</​Contents>356240 ··············​<Contents>Mixed·​autoinflammatory·​and·​autoimmune·​syndrome·​is·​a·​group·​of·​systemic·​diseases·​characterized·​by·​mixed·​patterns·​of·​dysregulated·​innate·​and/​or·​adaptive·​immune·​responses,​·​leading·​to·​chronic·​activation·​of·​the·​immune·​system·​and·​tissue·​inflammation,​·​which·​presents·​clincally·​with·​a·​wide·​range·​of·​variable,​·​concomitant,​·​autoimmune·​and·​autoinflammatory·​manifestations·​in·​various·​organ·​systems.​</​Contents>
356535 ············​</​TextSection>356241 ············​</​TextSection>
356536 ··········​</​TextSectionList>356242 ··········​</​TextSectionList>
356537 ········​</​SummaryInformation>356243 ········​</​SummaryInformation>
363133 ······​</​ExternalReferenceList​>362839 ······​</​ExternalReferenceList​>
363134 ······​<DisorderDisorderAsso​ciationList·​count="0">362840 ······​<DisorderDisorderAsso​ciationList·​count="0">
363135 ······​</​DisorderDisorderAssoc​iationList>362841 ······​</​DisorderDisorderAssoc​iationList>
363136 ······​<SummaryInformationLi​st·​count="1">362842 ······​<SummaryInformationLi​st·​count="0">
363137 ········<SummaryInformation·id="-​1"·lang="en">
363138 ··········<TextSectionList·count="0">
363139 ··········</​TextSectionList>
363140 ··········<TextAuto>
363141 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
363142 ··········</​TextAuto>
363143 ········</​SummaryInformation>
363144 ······​</​SummaryInformationLis​t>362843 ······​</​SummaryInformationLis​t>
363145 ····​</​Disorder>362844 ····​</​Disorder>
363146 ····​<Disorder·​id="21650">362845 ····​<Disorder·​id="21650">
365749 ······​<DisorderDisorderAsso​ciationList·​count="0">365448 ······​<DisorderDisorderAsso​ciationList·​count="0">
365750 ······​</​DisorderDisorderAssoc​iationList>365449 ······​</​DisorderDisorderAssoc​iationList>
365751 ······​<SummaryInformationLi​st·​count="1">365450 ······​<SummaryInformationLi​st·​count="1">
365752 ········​<SummaryInformation·​id="78133"·​lang="en">365451 ········​<SummaryInformation·​id="-​1"·​lang="en">
365753 ··········​<TextSectionList·​count="1">365452 ··········​<TextSectionList·​count="0">
365754 ············<TextSection·id="94703"·lang="en">
365755 ··············<TextSectionType·id="16907">
365756 ················<Name·lang="en">Definition<​/​Name>
365757 ··············</​TextSectionType>
365758 ··············<Contents>Primary·systemic·amyloidosis·(PSA)​·is·a·form·of·AL·amyloidosis·(see·this·term)​·caused·by·the·aggregation·and·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolded·monoclonal·immunoglobulin·light·chains·usually·produced·by·a·plasma·cell·tumor·(see·this·term)​·and·characterized·by·multiple·organ·involvement.​</​Contents>
365759 ············</​TextSection>
365760 ··········​</​TextSectionList>365453 ··········​</​TextSectionList>
365454 ··········​<TextAuto>
365455 ············​<Info·​lang="en">This·​disease·​is·​described·​under··​AL·​amyloidosis</​Info>
365456 ··········​</​TextAuto>
365761 ········​</​SummaryInformation>365457 ········​</​SummaryInformation>
365762 ······​</​SummaryInformationLis​t>365458 ······​</​SummaryInformationLis​t>
365763 ····​</​Disorder>365459 ····​</​Disorder>
365864 ········​</​DisorderDisorderAssoc​iation>365560 ········​</​DisorderDisorderAssoc​iation>
365865 ······​</​DisorderDisorderAssoc​iationList>365561 ······​</​DisorderDisorderAssoc​iationList>
365866 ······​<SummaryInformationLi​st·​count="1">365562 ······​<SummaryInformationLi​st·​count="1">
365867 ········​<SummaryInformation·​id="78134"·​lang="en">365563 ········​<SummaryInformation·​id="-​1"·​lang="en">
365868 ··········​<TextSectionList·​count="1">365564 ··········​<TextSectionList·​count="0">
365869 ············<TextSection·id="94704"·lang="en">
365870 ··············<TextSectionType·id="16907">
365871 ················<Name·lang="en">Definition<​/​Name>
365872 ··············</​TextSectionType>
365873 ··············<Contents>A·form·of·AL·amyloidosis·characterized·by·localized·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolded·monoclonal·immunoglobulin·light·chains·usually·produced·by·a·plasma·cell·tumor.​·Clinical·manifestations·are·restricted·to·the·organ·involved,​·most·frequently·urinary·tract·(bladder)​,​·eye,​·respiratory·tract·(larynx,​·lungs)​,​·and·skin.​</​Contents>
365874 ············</​TextSection>
365875 ··········​</​TextSectionList>365565 ··········​</​TextSectionList>
365566 ··········​<TextAuto>
365567 ············​<Info·​lang="en">This·​disease·​is·​described·​under··​AL·​amyloidosis</​Info>
365568 ··········​</​TextAuto>
365876 ········​</​SummaryInformation>365569 ········​</​SummaryInformation>
365877 ······​</​SummaryInformationLis​t>365570 ······​</​SummaryInformationLis​t>
365878 ····​</​Disorder>365571 ····​</​Disorder>
369762 ··············​<TextSectionType·​id="16907">369455 ··············​<TextSectionType·​id="16907">
369763 ················​<Name·​lang="en">Definition<​/​Name>369456 ················​<Name·​lang="en">Definition<​/​Name>
369764 ··············​</​TextSectionType>369457 ··············​</​TextSectionType>
369765 ··············​<Contents>Congenital·​muscular·​dystrophy·​with·​cerebellar·​involvement·​is·​a·​rare,​·​congenital·​muscular·​dystrophy·​due·​to·​dystroglycanopathy·​characterized·​by·​proximal·​muscule·​weakness·​with·​a·​tendency·​for·​muscle·​hypertrophy·​and·​pseudohypertrophy,​·​variable·​cognitive·​impairment,​·​microcephaly,​·​cerebellar·​hypoplasia·​with·​or·​without·​cysts,​·​and·​other·​structural·​brain·​anomalies.​</​Contents>369458 ··············​<Contents>Congenital·​muscular·​dystrophy·​with·​cerebellar·​involvement·​is·​a·​rare,​·​congenital·​muscular·​dystrophy·​due·​to·​dystroglycanopathy·​characterized·​by·​proximal·​muscle·​weakness·​with·​a·​tendency·​for·​muscle·​hypertrophy·​and·​pseudohypertrophy,​·​variable·​cognitive·​impairment,​·​microcephaly,​·​cerebellar·​hypoplasia·​with·​or·​without·​cysts,​·​and·​other·​structural·​brain·​anomalies.​</​Contents>
369766 ············​</​TextSection>369459 ············​</​TextSection>
369767 ··········​</​TextSectionList>369460 ··········​</​TextSectionList>
369768 ········​</​SummaryInformation>369461 ········​</​SummaryInformation>
376462 ······​</​ExternalReferenceList​>376155 ······​</​ExternalReferenceList​>
376463 ······​<DisorderDisorderAsso​ciationList·​count="0">376156 ······​<DisorderDisorderAsso​ciationList·​count="0">
376464 ······​</​DisorderDisorderAssoc​iationList>376157 ······​</​DisorderDisorderAssoc​iationList>
376465 ······​<SummaryInformationLi​st·​count="1">376158 ······​<SummaryInformationLi​st·​count="0">
376466 ········<SummaryInformation·id="-​1"·lang="en">
376467 ··········<TextSectionList·count="0">
376468 ··········</​TextSectionList>
376469 ··········<TextAuto>
376470 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
376471 ··········</​TextAuto>
376472 ········</​SummaryInformation>
376473 ······​</​SummaryInformationLis​t>376159 ······​</​SummaryInformationLis​t>
376474 ····​</​Disorder>376160 ····​</​Disorder>
376475 ····​<Disorder·​id="22312">376161 ····​<Disorder·​id="22312">
377964 ··············​<TextSectionType·​id="16907">377650 ··············​<TextSectionType·​id="16907">
377965 ················​<Name·​lang="en">Definition<​/​Name>377651 ················​<Name·​lang="en">Definition<​/​Name>
377966 ··············​</​TextSectionType>377652 ··············​</​TextSectionType>
377967 ··············​<Contents>A·​rare,​·​genetic,​·​syndromic·​intellectual·​disability·​disorder·​characterized·​by·​variable·​degrees·​of·​intellectual·​disability,​·​behavioral·​problems·​(including·​attention·​deficit·​and·​hyperactivity·​disorder,​·​autism·​spectrum·​disorder,​·​and·​aggressiveness)​,​·​an·​altered·​sleeping·​pattern,​·​and·​delayed·​speech·​and·​language·​development·​associated·​with·​disruption·​of·​ankryin-​3·​(&lt;​i&gt;​ANK3&lt;​/​i&gt;​·​gene)​.​·​Additional·​features·​observed·​may·​incude·​muscular·​hypotonia·​and·​spasticity.​·​Epilepsy,​·​chronic·​hunger,​·​and·​dysmorphic·​facial·​features·​have·​been·​reported.​</​Contents>377653 ··············​<Contents>A·​rare,​·​genetic,​·​syndromic·​intellectual·​disability·​disorder·​characterized·​by·​variable·​degrees·​of·​intellectual·​disability,​·​behavioral·​problems·​(including·​attention·​deficit·​and·​hyperactivity·​disorder,​·​autism·​spectrum·​disorder,​·​and·​aggressiveness)​,​·​an·​altered·​sleeping·​pattern,​·​and·​delayed·​speech·​and·​language·​development·​associated·​with·​disruption·​of·​ankryin-​3·​(&lt;​i&gt;​ANK3&lt;​/​i&gt;​·​gene)​.​·​Additional·​features·​observed·​may·​include·​muscular·​hypotonia·​and·​spasticity.​·​Epilepsy,​·​chronic·​hunger,​·​and·​dysmorphic·​facial·​features·​have·​been·​reported.​</​Contents>
377968 ············​</​TextSection>377654 ············​</​TextSection>
377969 ··········​</​TextSectionList>377655 ··········​</​TextSectionList>
377970 ········​</​SummaryInformation>377656 ········​</​SummaryInformation>
380790 ······​<OrphaCode>352740</​OrphaCode>380476 ······​<OrphaCode>352740</​OrphaCode>
380791 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=352740</​ExpertLink>380477 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=352740</​ExpertLink>
380792 ······​<Name·​lang="en">Ocular·​albinism·​with·​congenital·​sensorineural·​deafness</​Name>380478 ······​<Name·​lang="en">Ocular·​albinism·​with·​congenital·​sensorineural·​deafness</​Name>
380793 ······​<DisorderFlagList·​count="1">380479 ······​<DisorderFlagList·​count="3">
380480 ········​<DisorderFlag·​id="495">
380481 ··········​<Value>8192</​Value>
380482 ··········​<Label>Inactive</​Label>
380483 ········​</​DisorderFlag>
380484 ········​<DisorderFlag·​id="459">
380485 ··········​<Value>256</​Value>
380486 ··········​<Label>Deprecated·​entity</​Label>
380487 ········​</​DisorderFlag>
380794 ········​<DisorderFlag·​id="475">380488 ········​<DisorderFlag·​id="475">
380795 ··········​<Value>1</​Value>380489 ··········​<Value>1</​Value>
380796 ··········​<Label></​Label>380490 ··········​<Label></​Label>
380808 ······​</​DisorderGroup>380502 ······​</​DisorderGroup>
380809 ······​<ExternalReferenceLis​t·​count="0">380503 ······​<ExternalReferenceLis​t·​count="0">
380810 ······​</​ExternalReferenceList​>380504 ······​</​ExternalReferenceList​>
380811 ······​<DisorderDisorderAsso​ciationList·​count="0">380505 ······​<DisorderDisorderAsso​ciationList·​count="1">
380506 ········​<DisorderDisorderAsso​ciation>
380507 ··········​<TargetDisorder·​id="220">
380508 ············​<OrphaCode>895</​OrphaCode>
380509 ············​<Name·​lang="en">Waardenburg​·​syndrome·​type·​2</​Name>
380510 ··········​</​TargetDisorder>
380511 ··········​<RootDisorder·​id="22112"·​cycle="true"/​>
380512 ··········​<DisorderDisorderAsso​ciationType·​id="21471">
380513 ············​<Name·​lang="en">Moved·​to</​Name>
380514 ··········​</​DisorderDisorderAssoc​iationType>
380515 ········​</​DisorderDisorderAssoc​iation>
380812 ······​</​DisorderDisorderAssoc​iationList>380516 ······​</​DisorderDisorderAssoc​iationList>
380813 ······​<SummaryInformationLi​st·​count="0">380517 ······​<SummaryInformationLi​st·​count="1">
380518 ········​<SummaryInformation·​id="-​1"·​lang="en">
380519 ··········​<TextSectionList·​count="0">
380520 ··········​</​TextSectionList>
380521 ··········​<TextAuto>
380522 ············​<Info·​lang="en">This·​entity·​has·​been·​excluded·​from·​the·​Orphanet·​nomenclature·​of·​rare·​diseases·​and·​moved·​to··​Waardenburg·​syndrome·​type·​2</​Info>
380523 ··········​</​TextAuto>
380524 ········​</​SummaryInformation>
380814 ······​</​SummaryInformationLis​t>380525 ······​</​SummaryInformationLis​t>
380815 ····​</​Disorder>380526 ····​</​Disorder>
380816 ····​<Disorder·​id="22142">380527 ····​<Disorder·​id="22142">
394616 ······​</​ExternalReferenceList​>394327 ······​</​ExternalReferenceList​>
394617 ······​<DisorderDisorderAsso​ciationList·​count="0">394328 ······​<DisorderDisorderAsso​ciationList·​count="0">
394618 ······​</​DisorderDisorderAssoc​iationList>394329 ······​</​DisorderDisorderAssoc​iationList>
394619 ······​<SummaryInformationLi​st·​count="1">394330 ······​<SummaryInformationLi​st·​count="0">
394620 ········<SummaryInformation·id="-​1"·lang="en">
394621 ··········<TextSectionList·count="0">
394622 ··········</​TextSectionList>
394623 ··········<TextAuto>
394624 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
394625 ··········</​TextAuto>
394626 ········</​SummaryInformation>
394627 ······​</​SummaryInformationLis​t>394331 ······​</​SummaryInformationLis​t>
394628 ····​</​Disorder>394332 ····​</​Disorder>
394629 ····​<Disorder·​id="20629">394333 ····​<Disorder·​id="20629">
394836 ··············​<TextSectionType·​id="16907">394540 ··············​<TextSectionType·​id="16907">
394837 ················​<Name·​lang="en">Definition<​/​Name>394541 ················​<Name·​lang="en">Definition<​/​Name>
394838 ··············​</​TextSectionType>394542 ··············​</​TextSectionType>
394839 ··············​<Contents>A·​rare,​·​genetic,​·​systemic·​disease·​characterized·​by·​the·​presence·​of·​arterial·​aneurysms,​·​tortuosity·​and·​dissection·​throughout·​the·​arterial·​tree,​·​associated·​with·​early-​onset·​osteoarthritis·​(predominantly·​affecting·​the·​spine,​·​hands·​and/​or·​wrists,​·​and·​knees)​·​and·​mild·​craniofacial·​dysmorphism·​(incl.​·​long·​face,​·​high·​forehead,​·​flat·​supraorbital·​ridges,​·​hypertelorism,​·​malar·​hypoplasia·​and,​·​a·​raphe,​·​broad·​or·​bifid·​uvula)​,​·​as·​well·​as·​mild·​skeletal·​and·​cutaneous·​anomalies.​·​Joint·​abnormalities,​·​such·​as·​osteochondritis·​dissecans·​and·​intervertebral·​disc·​degeneration,​·​are·​frequently·​associated.​·​Additonal·​cardiovascular·​anomalies·​may·​include·​mitral·​valve·​defects,​·​congenital·​heart·​malformations,​·​ventricular·​hypertrophy·​and·​atrial·​fibrillation.​</​Contents>394543 ··············​<Contents>A·​rare,​·​genetic,​·​systemic·​disease·​characterized·​by·​the·​presence·​of·​arterial·​aneurysms,​·​tortuosity·​and·​dissection·​throughout·​the·​arterial·​tree,​·​associated·​with·​early-​onset·​osteoarthritis·​(predominantly·​affecting·​the·​spine,​·​hands·​and/​or·​wrists,​·​and·​knees)​·​and·​mild·​craniofacial·​dysmorphism·​(incl.​·​long·​face,​·​high·​forehead,​·​flat·​supraorbital·​ridges,​·​hypertelorism,​·​malar·​hypoplasia·​and,​·​a·​raphe,​·​broad·​or·​bifid·​uvula)​,​·​as·​well·​as·​mild·​skeletal·​and·​cutaneous·​anomalies.​·​Joint·​abnormalities,​·​such·​as·​osteochondritis·​dissecans·​and·​intervertebral·​disc·​degeneration,​·​are·​frequently·​associated.​·​Additional·​cardiovascular·​anomalies·​may·​include·​mitral·​valve·​defects,​·​congenital·​heart·​malformations,​·​ventricular·​hypertrophy·​and·​atrial·​fibrillation.​</​Contents>
394840 ············​</​TextSection>394544 ············​</​TextSection>
394841 ··········​</​TextSectionList>394545 ··········​</​TextSectionList>
394842 ········​</​SummaryInformation>394546 ········​</​SummaryInformation>
398315 ··············​<TextSectionType·​id="16907">398019 ··············​<TextSectionType·​id="16907">
398316 ················​<Name·​lang="en">Definition<​/​Name>398020 ················​<Name·​lang="en">Definition<​/​Name>
398317 ··············​</​TextSectionType>398021 ··············​</​TextSectionType>
398318 ··············​<Contents>Hemoglobino​pathy·​Toms·​River·​is·​a·​rare,​·​genetic·​hemoglobinopathy·​disorder,​·​due·​to·​a·​defect·​in·​the·​gama·​subunit·​of·​the·​fetal·​hemoglobin,​·​characterized·​by·​neonatal·​cyanosis,​·​low·​hemoglobin·​oxygen·​saturation·​levels·​without·​arterial·​hypoxemia,​·​moderate·​anemia·​and·​reticulocytosis,​·​not·​associated·​with·​heart·​or·​lung·​disease.​·​Symptoms·​progressively·​subside·​within·​the·​first·​months·​of·​life.​</​Contents>398022 ··············​<Contents>Hemoglobino​pathy·​Toms·​River·​is·​a·​rare,​·​genetic·​hemoglobinopathy·​disorder,​·​due·​to·​a·​defect·​in·​the·​gamma·​subunit·​of·​the·​fetal·​hemoglobin,​·​characterized·​by·​neonatal·​cyanosis,​·​low·​hemoglobin·​oxygen·​saturation·​levels·​without·​arterial·​hypoxemia,​·​moderate·​anemia·​and·​reticulocytosis,​·​not·​associated·​with·​heart·​or·​lung·​disease.​·​Symptoms·​progressively·​subside·​within·​the·​first·​months·​of·​life.​</​Contents>
398319 ············​</​TextSection>398023 ············​</​TextSection>
398320 ··········​</​TextSectionList>398024 ··········​</​TextSectionList>
398321 ········​</​SummaryInformation>398025 ········​</​SummaryInformation>
398385 ··············​<TextSectionType·​id="16907">398089 ··············​<TextSectionType·​id="16907">
398386 ················​<Name·​lang="en">Definition<​/​Name>398090 ················​<Name·​lang="en">Definition<​/​Name>
398387 ··············​</​TextSectionType>398091 ··············​</​TextSectionType>
398388 ··············​<Contents>Hereditary·​sensorimotor·​neuropathy·​with·​hyperelastic·​skin·​is·​a·​rare,​·​genetic,​·​demyelinating·​hereditary·​motor·​and·​sensory·​neuropathy·​disorder·​characterized·​by·​slowly·​progressive,​·​mild·​to·​moderate,​·​distal·​muscle·​weakness·​and·​atrophy·​of·​the·​upper·​and·​lower·​limbs·​and·​variable·​distal·​sensory·​impairment,​·​associated·​with·​variable·​hyperextensible·​skin·​and·​age-​related·​macular·​degeneration.​·​Hypermobility·​of·​distal·​joints,​·​high·​palate,​·​and·​minor·​skeletal·​abnormalities·​(e.​g.​·​pectus·​excavatus,​·​dolichocephaly)​·​may·​also·​be·​associated.​</​Contents>398092 ··············​<Contents>Hereditary·​sensorimotor·​neuropathy·​with·​hyperelastic·​skin·​is·​a·​rare,​·​genetic,​·​demyelinating·​hereditary·​motor·​and·​sensory·​neuropathy·​disorder·​characterized·​by·​slowly·​progressive,​·​mild·​to·​moderate,​·​distal·​muscle·​weakness·​and·​atrophy·​of·​the·​upper·​and·​lower·​limbs·​and·​variable·​distal·​sensory·​impairment,​·​associated·​with·​variable·​hyperextensible·​skin·​and·​age-​related·​macular·​degeneration.​·​Hypermobility·​of·​distal·​joints,​·​high·​palate,​·​and·​minor·​skeletal·​abnormalities·​(e.​g.​·​pectus·​excavatum,​·​dolichocephaly)​·​may·​also·​be·​associated.​</​Contents>
398389 ············​</​TextSection>398093 ············​</​TextSection>
398390 ··········​</​TextSectionList>398094 ··········​</​TextSectionList>
398391 ········​</​SummaryInformation>398095 ········​</​SummaryInformation>
402903 ··············​<TextSectionType·​id="16907">402607 ··············​<TextSectionType·​id="16907">
402904 ················​<Name·​lang="en">Definition<​/​Name>402608 ················​<Name·​lang="en">Definition<​/​Name>
402905 ··············​</​TextSectionType>402609 ··············​</​TextSectionType>
402906 ··············​<Contents>High·​bone·​mass·​osteogenesis·​imperfecta·​is·​a·​rare,​·​genetic,​·​primary·​bone·​dysplasia·​disorder·​characterized·​by·​increased·​bone·​fragility,​·​manifesting·​with·​mutiple,​·​childhood-​onset,​·​vertebral·​and·​peripheral·​fractures,​·​associated·​with·​increased·​bone·​mass·​density·​on·​radiometric·​examination.​·​Patients·​typically·​present·​normal·​or·​mild·​short·​stature·​and·​dentinogenesis,​·​hearing,​·​and·​sclerae·​are·​commonly·​normal.​</​Contents>402610 ··············​<Contents>High·​bone·​mass·​osteogenesis·​imperfecta·​is·​a·​rare,​·​genetic,​·​primary·​bone·​dysplasia·​disorder·​characterized·​by·​increased·​bone·​fragility,​·​manifesting·​with·​multiple,​·​childhood-​onset,​·​vertebral·​and·​peripheral·​fractures,​·​associated·​with·​increased·​bone·​mass·​density·​on·​radiometric·​examination.​·​Patients·​typically·​present·​normal·​or·​mild·​short·​stature·​and·​dentinogenesis,​·​hearing,​·​and·​sclerae·​are·​commonly·​normal.​</​Contents>
402907 ············​</​TextSection>402611 ············​</​TextSection>
402908 ··········​</​TextSectionList>402612 ··········​</​TextSectionList>
402909 ········​</​SummaryInformation>402613 ········​</​SummaryInformation>
411663 ··············​<TextSectionType·​id="16907">411367 ··············​<TextSectionType·​id="16907">
411664 ················​<Name·​lang="en">Definition<​/​Name>411368 ················​<Name·​lang="en">Definition<​/​Name>
411665 ··············​</​TextSectionType>411369 ··············​</​TextSectionType>
411666 ··············​<Contents>A·​rare,​·​genetic·​disorder·​of·​pyrimidine·​metabolism·​characterized·​by·​increased·​serum·​beta-​alanine·​levels·​and·​severe·​phenotype·​including·​hypotonia,​·​malaise,​·​seizures,​·​respiratory·​distress,​·​lethargy·​and·​encephalopahty.​·​Urinary·​excretion·​of·​beta-​alanine,​·​beta-​amino-​isobutyric·​acid,​·​taurine,​·​and·​gamma-​amino-​butyric·​acid·​is·​also·​elevated.​·​There·​have·​been·​no·​further·​descriptions·​in·​the·​literature·​since·​1994.​</​Contents>411370 ··············​<Contents>A·​rare,​·​genetic·​disorder·​of·​pyrimidine·​metabolism·​characterized·​by·​increased·​serum·​beta-​alanine·​levels·​and·​severe·​phenotype·​including·​hypotonia,​·​malaise,​·​seizures,​·​respiratory·​distress,​·​lethargy·​and·​encephalopathy.​·​Urinary·​excretion·​of·​beta-​alanine,​·​beta-​amino-​isobutyric·​acid,​·​taurine,​·​and·​gamma-​amino-​butyric·​acid·​is·​also·​elevated.​·​There·​have·​been·​no·​further·​descriptions·​in·​the·​literature·​since·​1994.​</​Contents>
411667 ············​</​TextSection>411371 ············​</​TextSection>
411668 ··········​</​TextSectionList>411372 ··········​</​TextSectionList>
411669 ········​</​SummaryInformation>411373 ········​</​SummaryInformation>
413489 ······​</​ExternalReferenceList​>413193 ······​</​ExternalReferenceList​>
413490 ······​<DisorderDisorderAsso​ciationList·​count="0">413194 ······​<DisorderDisorderAsso​ciationList·​count="0">
413491 ······​</​DisorderDisorderAssoc​iationList>413195 ······​</​DisorderDisorderAssoc​iationList>
413492 ······​<SummaryInformationLi​st·​count="1">413196 ······​<SummaryInformationLi​st·​count="0">
413493 ········<SummaryInformation·id="-​1"·lang="en">
413494 ··········<TextSectionList·count="0">
413495 ··········</​TextSectionList>
413496 ··········<TextAuto>
413497 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
413498 ··········</​TextAuto>
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414314 ··········</​TextAuto>
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414318 ····​<Disorder·​id="21184">414001 ····​<Disorder·​id="21184">
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421512 ····​<Disorder·​id="24019">421181 ····​<Disorder·​id="24019">
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422172 ····​<Disorder·​id="24028">421834 ····​<Disorder·​id="24028">
424229 ····​<Disorder·​id="23616">423891 ····​<Disorder·​id="23616">
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424232 ······​<Name·​lang="en">Symptomatic​·​form·​of·​fragile·​X·​syndrome·​in·​female·​carrier</​Name>423894 ······​<Name·​lang="en">Symptomatic​·​form·​of·​fragile·​X·​syndrome·​in·​female·​carriers</​Name>
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430392 ··········</​TextAuto>
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430474 ····​<Disorder·​id="24151">430122 ····​<Disorder·​id="24151">
431720 ··············​<TextSectionType·​id="16907">431368 ··············​<TextSectionType·​id="16907">
431721 ················​<Name·​lang="en">Definition<​/​Name>431369 ················​<Name·​lang="en">Definition<​/​Name>
431722 ··············​</​TextSectionType>431370 ··············​</​TextSectionType>
431723 ··············​<Contents>A·​rare·​constitutional·​hemolytic·​anemia·​characterized·​in·​symptomatic·​forms·​by·​mild·​to·​severe·​chronic·​hemolysis,​·​which·​is·​further·​exacerbated·​by·​oxidative·​stress·​and·​may·​lead·​to·​chronic·​non-​sperocytic·​hemolytic·​anemia·​of·​variable·​severity.​·​Variation·​in·​glucose-​6-​phosphate·​dehydrogenase·​levels·​accounts·​for·​differences·​in·​sensitivity·​to·​oxidants,​·​with·​chronic·​hemolysis·​occurring·​in·​association·​with·​very·​low·​enzyme·​levels,​·​while·​the·​majority·​of·​affected·​individuals·​remain·​asymptomatic.​·​The·​most·​common·​clinical·​manifestations·​are·​neonatal·​jaundice·​and·​signs·​and·​symptoms·​of·​acute·​hemolysis·​(such·​as·​fatigue,​·​back·​pain,​·​anemia,​·​and·​jaundice)​.​</​Contents>431371 ··············​<Contents>A·​rare·​constitutional·​hemolytic·​anemia·​characterized·​in·​symptomatic·​forms·​by·​mild·​to·​severe·​chronic·​hemolysis,​·​which·​is·​further·​exacerbated·​by·​oxidative·​stress·​and·​may·​lead·​to·​chronic·​non-​shperocytic·​hemolytic·​anemia·​of·​variable·​severity.​·​Variation·​in·​glucose-​6-​phosphate·​dehydrogenase·​levels·​accounts·​for·​differences·​in·​sensitivity·​to·​oxidants,​·​with·​chronic·​hemolysis·​occurring·​in·​association·​with·​very·​low·​enzyme·​levels,​·​while·​the·​majority·​of·​affected·​individuals·​remain·​asymptomatic.​·​The·​most·​common·​clinical·​manifestations·​are·​neonatal·​jaundice·​and·​signs·​and·​symptoms·​of·​acute·​hemolysis·​(such·​as·​fatigue,​·​back·​pain,​·​anemia,​·​and·​jaundice)​.​</​Contents>
431724 ············​</​TextSection>431372 ············​</​TextSection>
431725 ··········​</​TextSectionList>431373 ··········​</​TextSectionList>
431726 ········​</​SummaryInformation>431374 ········​</​SummaryInformation>
431969 ··············​<TextSectionType·​id="16907">431617 ··············​<TextSectionType·​id="16907">
431970 ················​<Name·​lang="en">Definition<​/​Name>431618 ················​<Name·​lang="en">Definition<​/​Name>
431971 ··············​</​TextSectionType>431619 ··············​</​TextSectionType>
431972 ··············​<Contents>A·​rare·​intestinal·​disease·​characterized·​by·​chronic·​or·​relapsing·​subileus·​or·​ileus·​resulting·​from·​multiple·​unexplained·​fibrous·​structures·​and·​multiple·​shallow·​(i.​·​e.​·​limited·​to·​the·​mucosa·​or·​submucosa)​·​ulcerations·​of·​the·​small·​intestine·​(mainly·​the·​ileum)​,​·​in·​the·​absence·​of·​signs·​of·​a·​systemic·​inflammatory·​reaction.​·​Patients·​may·​present·​with·​chronic·​iron-​deficiency·​anemia·​due·​to·​chronic·​intestinal·​blood·​loss,​·​chronic·​recurrent·​abdominal·​pain,​·​fatigue,​·​edema,​·​or·​growth·​retardation.​·​Extraintestinal·​manifestations·​such·​as·sicca·​syndrome,​·​polyarthralgia,​·​or·​Raynaud's·​phenomenon·​may·​also·​be·​observed.​</​Contents>431620 ··············​<Contents>A·​rare·​intestinal·​disease·​characterized·​by·​chronic·​or·​relapsing·​subileus·​or·​ileus·​resulting·​from·​multiple·​unexplained·​fibrous·​structures·​and·​multiple·​shallow·​(i.​·​e.​·​limited·​to·​the·​mucosa·​or·​submucosa)​·​ulcerations·​of·​the·​small·​intestine·​(mainly·​the·​ileum)​,​·​in·​the·​absence·​of·​signs·​of·​a·​systemic·​inflammatory·​reaction.​·​Patients·​may·​present·​with·​chronic·​iron-​deficiency·​anemia·​due·​to·​chronic·​intestinal·​blood·​loss,​·​chronic·​recurrent·​abdominal·​pain,​·​fatigue,​·​edema,​·​or·​growth·​retardation.​·​Extraintestinal·​manifestations·​such·​as·Sicca·​syndrome,​·​polyarthralgia,​·​or·​Raynaud's·​phenomenon·​may·​also·​be·​observed.​</​Contents>
431973 ············​</​TextSection>431621 ············​</​TextSection>
431974 ··········​</​TextSectionList>431622 ··········​</​TextSectionList>
431975 ········​</​SummaryInformation>431623 ········​</​SummaryInformation>
434930 ··············​<TextSectionType·​id="16907">434578 ··············​<TextSectionType·​id="16907">
434931 ················​<Name·​lang="en">Definition<​/​Name>434579 ················​<Name·​lang="en">Definition<​/​Name>
434932 ··············​</​TextSectionType>434580 ··············​</​TextSectionType>
434933 ··············​<Contents>Autosomal·​recessive·​spondylometaphyseal·​dysplasia,​·​Mégarbané·​type·​is·​a·​rare,​·​primary·​bone·​dysplasia·​characterized·​by·​intrauterine·​growth·​retardation,​·​pre-​·​and·​postnatal·​disproportionate·​short·​stature·​with·​short,​·​rhizomelic·​limbs,​·​facial·​dysmorphism,​·​a·​short·​neck·​and·​small·​thorax.​·​Hypotonia,​·​cardiomegaly·​and·​global·​developmetal·​delay·​have·​also·​been·​associated.​·​Several·​radiographic·​findings·​have·​been·​reported,​·​including·​ribs·​with·​cupped·​ends,​·​platyspondyly,​·​square·​iliac·​bones,​·​horizontal·​and·​trident·​acetabula,​·​hypoplastic·​ischia,​·​and·​delayed·​epiphyseal·​ossification.​</​Contents>434581 ··············​<Contents>Autosomal·​recessive·​spondylometaphyseal·​dysplasia,​·​Mégarbané·​type·​is·​a·​rare,​·​primary·​bone·​dysplasia·​characterized·​by·​intrauterine·​growth·​retardation,​·​pre-​·​and·​postnatal·​disproportionate·​short·​stature·​with·​short,​·​rhizomelic·​limbs,​·​facial·​dysmorphism,​·​a·​short·​neck·​and·​small·​thorax.​·​Hypotonia,​·​cardiomegaly·​and·​global·​developmental·​delay·​have·​also·​been·​associated.​·​Several·​radiographic·​findings·​have·​been·​reported,​·​including·​ribs·​with·​cupped·​ends,​·​platyspondyly,​·​square·​iliac·​bones,​·​horizontal·​and·​trident·​acetabula,​·​hypoplastic·​ischia,​·​and·​delayed·​epiphyseal·​ossification.​</​Contents>
434934 ············​</​TextSection>434582 ············​</​TextSection>
434935 ··········​</​TextSectionList>434583 ··········​</​TextSectionList>
434936 ········​</​SummaryInformation>434584 ········​</​SummaryInformation>
437743 ······​</​ExternalReferenceList​>437391 ······​</​ExternalReferenceList​>
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437745 ······​</​DisorderDisorderAssoc​iationList>437393 ······​</​DisorderDisorderAssoc​iationList>
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437750 ··········<TextAuto>
437751 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
437752 ··········</​TextAuto>
437753 ········</​SummaryInformation>
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442669 ··········<TextAuto>
442670 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
442671 ··········</​TextAuto>
442672 ········</​SummaryInformation>
442673 ······​</​SummaryInformationLis​t>442307 ······​</​SummaryInformationLis​t>
442674 ····​</​Disorder>442308 ····​</​Disorder>
442675 ····​<Disorder·​id="22715">442309 ····​<Disorder·​id="22715">
443867 ··············​<TextSectionType·​id="16907">443501 ··············​<TextSectionType·​id="16907">
443868 ················​<Name·​lang="en">Definition<​/​Name>443502 ················​<Name·​lang="en">Definition<​/​Name>
443869 ··············​</​TextSectionType>443503 ··············​</​TextSectionType>
443870 ··············​<Contents>Intellectua​l·​disability-​coarse·​face-​macrocephaly-​cerebellar·​hypotrophy·​syndrome·​is·​a·​rare,​·​genetic,​·​central·​nervous·​system·​malformation·​syndrome·​characterized·​by·​early-​onset,​·​progressive,​·​severe·​cerebellar·​ataxia·​associated·​with·​progressive,​·​moderate·​to·​severe·​intellecutal·​disability,​·​global·​developmental·​delay,​·​progressively·​coarsening·​facial·​features,​·​relative·​macrocephaly·​and·​absence·​of·​seizures.​·​Sensorineural·​hearing·​loss·​may·​be·​associated.​·​Neuroimaging·​reveals·​cerebellar·​atrophy/​hypoplasia.​</​Contents>443504 ··············​<Contents>Intellectua​l·​disability-​coarse·​face-​macrocephaly-​cerebellar·​hypotrophy·​syndrome·​is·​a·​rare,​·​genetic,​·​central·​nervous·​system·​malformation·​syndrome·​characterized·​by·​early-​onset,​·​progressive,​·​severe·​cerebellar·​ataxia·​associated·​with·​progressive,​·​moderate·​to·​severe·​intellectual·​disability,​·​global·​developmental·​delay,​·​progressively·​coarsening·​facial·​features,​·​relative·​macrocephaly·​and·​absence·​of·​seizures.​·​Sensorineural·​hearing·​loss·​may·​be·​associated.​·​Neuroimaging·​reveals·​cerebellar·​atrophy/​hypoplasia.​</​Contents>
443871 ············​</​TextSection>443505 ············​</​TextSection>
443872 ··········​</​TextSectionList>443506 ··········​</​TextSectionList>
443873 ········​</​SummaryInformation>443507 ········​</​SummaryInformation>
447210 ······​</​ExternalReferenceList​>446844 ······​</​ExternalReferenceList​>
447211 ······​<DisorderDisorderAsso​ciationList·​count="0">446845 ······​<DisorderDisorderAsso​ciationList·​count="0">
447212 ······​</​DisorderDisorderAssoc​iationList>446846 ······​</​DisorderDisorderAssoc​iationList>
447213 ······​<SummaryInformationLi​st·​count="1">446847 ······​<SummaryInformationLi​st·​count="0">
447214 ········<SummaryInformation·id="-​1"·lang="en">
447215 ··········<TextSectionList·count="0">
447216 ··········</​TextSectionList>
447217 ··········<TextAuto>
447218 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
447219 ··········</​TextAuto>
447220 ········</​SummaryInformation>
447221 ······​</​SummaryInformationLis​t>446848 ······​</​SummaryInformationLis​t>
447222 ····​</​Disorder>446849 ····​</​Disorder>
447223 ····​<Disorder·​id="22741">446850 ····​<Disorder·​id="22741">
447294 ······​</​ExternalReferenceList​>446921 ······​</​ExternalReferenceList​>
447295 ······​<DisorderDisorderAsso​ciationList·​count="0">446922 ······​<DisorderDisorderAsso​ciationList·​count="0">
447296 ······​</​DisorderDisorderAssoc​iationList>446923 ······​</​DisorderDisorderAssoc​iationList>
447297 ······​<SummaryInformationLi​st·​count="1">446924 ······​<SummaryInformationLi​st·​count="0">
447298 ········<SummaryInformation·id="-​1"·lang="en">
447299 ··········<TextSectionList·count="0">
447300 ··········</​TextSectionList>
447301 ··········<TextAuto>
447302 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
447303 ··········</​TextAuto>
447304 ········</​SummaryInformation>
447305 ······​</​SummaryInformationLis​t>446925 ······​</​SummaryInformationLis​t>
447306 ····​</​Disorder>446926 ····​</​Disorder>
447307 ····​<Disorder·​id="22743">446927 ····​<Disorder·​id="22743">
450500 ··············​<TextSectionType·​id="16907">450120 ··············​<TextSectionType·​id="16907">
450501 ················​<Name·​lang="en">Definition<​/​Name>450121 ················​<Name·​lang="en">Definition<​/​Name>
450502 ··············​</​TextSectionType>450122 ··············​</​TextSectionType>
450503 ··············​<Contents>A·​rare,​·​genetic,​·​lypmhoproliferative·​syndrome·​characterized·​by·​early·​onset·​recurrent·​infections,​·​lymphadenopathy·​with·​hepatosplenomegaly·​and·​variabe·​autoimmune·​disorders,​·​including·​hemolytic·​anemia,​·​thrombocytopenia,​·​neutropenia,​·​enteropathy,​·​type·​I·​diabetes,​·​scleroderma,​·​arthritis,​·​atopic·​dermatitis,​·​and·​inflammatory·​lung·​disease.​·​Patients·​commonly·​have·​failure·​to·​thrive.​·​Variable·​immunologic·​findings·​include·​decreased·​regulatory·​T-​cells,​·​hypogammaglobulinemia​,​·​and·​reduction·​in·​memory·​B·​cells.​</​Contents>450123 ··············​<Contents>A·​rare,​·​genetic,​·​lymphoproliferative·​syndrome·​characterized·​by·​early·​onset·​recurrent·​infections,​·​lymphadenopathy·​with·​hepatosplenomegaly·​and·​variable·​autoimmune·​disorders,​·​including·​hemolytic·​anemia,​·​thrombocytopenia,​·​neutropenia,​·​enteropathy,​·​type·​I·​diabetes,​·​scleroderma,​·​arthritis,​·​atopic·​dermatitis,​·​and·​inflammatory·​lung·​disease.​·​Patients·​commonly·​have·​failure·​to·​thrive.​·​Variable·​immunologic·​findings·​include·​decreased·​regulatory·​T-​cells,​·​hypogammaglobulinemia​,​·​and·​reduction·​in·​memory·​B·​cells.​</​Contents>
450504 ············​</​TextSection>450124 ············​</​TextSection>
450505 ··········​</​TextSectionList>450125 ··········​</​TextSectionList>
450506 ········​</​SummaryInformation>450126 ········​</​SummaryInformation>
453075 ··········​</​DisorderDisorderAssoc​iationType>452695 ··········​</​DisorderDisorderAssoc​iationType>
453076 ········​</​DisorderDisorderAssoc​iation>452696 ········​</​DisorderDisorderAssoc​iation>
453077 ······​</​DisorderDisorderAssoc​iationList>452697 ······​</​DisorderDisorderAssoc​iationList>
453078 ······​<SummaryInformationLi​st·​count="1">452698 ······​<SummaryInformationLi​st·​count="0">
453079 ········<SummaryInformation·id="-​1"·lang="en">
453080 ··········<TextSectionList·count="0">
453081 ··········</​TextSectionList>
453082 ··········<TextAuto>
453083 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
453084 ··········</​TextAuto>
453085 ········</​SummaryInformation>
453086 ······​</​SummaryInformationLis​t>452699 ······​</​SummaryInformationLis​t>
453087 ····​</​Disorder>452700 ····​</​Disorder>
453088 ····​<Disorder·​id="23422">452701 ····​<Disorder·​id="23422">
455631 ··············​<TextSectionType·​id="16907">455244 ··············​<TextSectionType·​id="16907">
455632 ················​<Name·​lang="en">Definition<​/​Name>455245 ················​<Name·​lang="en">Definition<​/​Name>
455633 ··············​</​TextSectionType>455246 ··············​</​TextSectionType>
455634 ··············​<Contents>A·​rare·​form·​of·​salmonellosis·​caused·​by·&lt;​i&gt;​Salmonella·​enterica&lt;​/​i&gt;​·​serovar·​Paratyphi·​A,​·​characterized·​by·​typical·​symptoms·​of·​enteric·​fever·​including·​high·​fever,​·​headache,​·​abdominal·​pain·​and·​intestinal·​symptoms,​·​dry·​cough,​·​chills,​·​and·​rashes,​·​followed·​by·​a·​long·​period·​of·​recovery.​·​The·​infection·​can·​be·​complicated·​by·​intestinal·​hemorrhage·​and·​perforation,​·​as·​well·​as·​cardiac·​involvement,​·​and·​may·​even·​be·​fatal.​·​Transmission·​of·​the·​pathogen·​is·​via·​the·​fecal-​oral·​route,​·​with·​humans·​as·​the·​sole·​reservoir·​of·​infection.​</​Contents>455247 ··············​<Contents>A·​rare·​form·​of·​salmonellosis·​caused·​by·​Salmonella·​enterica·​serovar·​Paratyphi·​A,​·B·and·C,​·​characterized·​by·​typical·​symptoms·​of·​enteric·​fever·​including·​high·​fever,​·​headache,​·​abdominal·​pain·​and·​intestinal·​symptoms,​·​dry·​cough,​·​chills,​·​and·​rashes,​·​followed·​by·​a·​long·​period·​of·​recovery.​·​The·​infection·​can·​be·​complicated·​by·​intestinal·​hemorrhage·​and·​perforation,​·​as·​well·​as·​cardiac·​involvement,​·​and·​may·​even·​be·​fatal.​·​Transmission·​of·​the·​pathogen·​is·​via·​the·​fecal-​oral·​route,​·​with·​humans·​as·​the·​sole·​reservoir·​of·​infection.​</​Contents>
455635 ············​</​TextSection>455248 ············​</​TextSection>
455636 ··········​</​TextSectionList>455249 ··········​</​TextSectionList>
455637 ········​</​SummaryInformation>455250 ········​</​SummaryInformation>
462360 ······​</​ExternalReferenceList​>461973 ······​</​ExternalReferenceList​>
462361 ······​<DisorderDisorderAsso​ciationList·​count="0">461974 ······​<DisorderDisorderAsso​ciationList·​count="0">
462362 ······​</​DisorderDisorderAssoc​iationList>461975 ······​</​DisorderDisorderAssoc​iationList>
462363 ······​<SummaryInformationLi​st·​count="1">461976 ······​<SummaryInformationLi​st·​count="0">
462364 ········<SummaryInformation·id="-​1"·lang="en">
462365 ··········<TextSectionList·count="0">
462366 ··········</​TextSectionList>
462367 ··········<TextAuto>
462368 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
462369 ··········</​TextAuto>
462370 ········</​SummaryInformation>
462371 ······​</​SummaryInformationLis​t>461977 ······​</​SummaryInformationLis​t>
462372 ····​</​Disorder>461978 ····​</​Disorder>
462373 ····​<Disorder·​id="23164">461979 ····​<Disorder·​id="23164">
463735 ······​</​ExternalReferenceList​>463341 ······​</​ExternalReferenceList​>
463736 ······​<DisorderDisorderAsso​ciationList·​count="0">463342 ······​<DisorderDisorderAsso​ciationList·​count="0">
463737 ······​</​DisorderDisorderAssoc​iationList>463343 ······​</​DisorderDisorderAssoc​iationList>
463738 ······​<SummaryInformationLi​st·​count="1">463344 ······​<SummaryInformationLi​st·​count="0">
463739 ········<SummaryInformation·id="-​1"·lang="en">
463740 ··········<TextSectionList·count="0">
463741 ··········</​TextSectionList>
463742 ··········<TextAuto>
463743 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
463744 ··········</​TextAuto>
463745 ········</​SummaryInformation>
463746 ······​</​SummaryInformationLis​t>463345 ······​</​SummaryInformationLis​t>
463747 ····​</​Disorder>463346 ····​</​Disorder>
463748 ····​<Disorder·​id="23191">463347 ····​<Disorder·​id="23191">
464105 ··········​</​DisorderDisorderAssoc​iationType>463704 ··········​</​DisorderDisorderAssoc​iationType>
464106 ········​</​DisorderDisorderAssoc​iation>463705 ········​</​DisorderDisorderAssoc​iation>
464107 ······​</​DisorderDisorderAssoc​iationList>463706 ······​</​DisorderDisorderAssoc​iationList>
464108 ······​<SummaryInformationLi​st·​count="1">463707 ······​<SummaryInformationLi​st·​count="0">
464109 ········<SummaryInformation·id="-​1"·lang="en">
464110 ··········<TextSectionList·count="0">
464111 ··········</​TextSectionList>
464112 ··········<TextAuto>
464113 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
464114 ··········</​TextAuto>
464115 ········</​SummaryInformation>
464116 ······​</​SummaryInformationLis​t>463708 ······​</​SummaryInformationLis​t>
464117 ····​</​Disorder>463709 ····​</​Disorder>
464118 ····​<Disorder·​id="23178">463710 ····​<Disorder·​id="23178">
464703 ······​</​ExternalReferenceList​>464295 ······​</​ExternalReferenceList​>
464704 ······​<DisorderDisorderAsso​ciationList·​count="0">464296 ······​<DisorderDisorderAsso​ciationList·​count="0">
464705 ······​</​DisorderDisorderAssoc​iationList>464297 ······​</​DisorderDisorderAssoc​iationList>
464706 ······​<SummaryInformationLi​st·​count="1">464298 ······​<SummaryInformationLi​st·​count="0">
464707 ········<SummaryInformation·id="-​1"·lang="en">
464708 ··········<TextSectionList·count="0">
464709 ··········</​TextSectionList>
464710 ··········<TextAuto>
464711 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
464712 ··········</​TextAuto>
464713 ········</​SummaryInformation>
464714 ······​</​SummaryInformationLis​t>464299 ······​</​SummaryInformationLis​t>
464715 ····​</​Disorder>464300 ····​</​Disorder>
464716 ····​<Disorder·​id="23172">464301 ····​<Disorder·​id="23172">
464828 ······​</​ExternalReferenceList​>464413 ······​</​ExternalReferenceList​>
464829 ······​<DisorderDisorderAsso​ciationList·​count="0">464414 ······​<DisorderDisorderAsso​ciationList·​count="0">
464830 ······​</​DisorderDisorderAssoc​iationList>464415 ······​</​DisorderDisorderAssoc​iationList>
464831 ······​<SummaryInformationLi​st·​count="1">464416 ······​<SummaryInformationLi​st·​count="0">
464832 ········<SummaryInformation·id="-​1"·lang="en">
464833 ··········<TextSectionList·count="0">
464834 ··········</​TextSectionList>
464835 ··········<TextAuto>
464836 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
464837 ··········</​TextAuto>
464838 ········</​SummaryInformation>
464839 ······​</​SummaryInformationLis​t>464417 ······​</​SummaryInformationLis​t>
464840 ····​</​Disorder>464418 ····​</​Disorder>
464841 ····​<Disorder·​id="23231">464419 ····​<Disorder·​id="23231">
464921 ······​</​ExternalReferenceList​>464499 ······​</​ExternalReferenceList​>
464922 ······​<DisorderDisorderAsso​ciationList·​count="0">464500 ······​<DisorderDisorderAsso​ciationList·​count="0">
464923 ······​</​DisorderDisorderAssoc​iationList>464501 ······​</​DisorderDisorderAssoc​iationList>
464924 ······​<SummaryInformationLi​st·​count="1">464502 ······​<SummaryInformationLi​st·​count="0">
464925 ········<SummaryInformation·id="-​1"·lang="en">
464926 ··········<TextSectionList·count="0">
464927 ··········</​TextSectionList>
464928 ··········<TextAuto>
464929 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
464930 ··········</​TextAuto>
464931 ········</​SummaryInformation>
464932 ······​</​SummaryInformationLis​t>464503 ······​</​SummaryInformationLis​t>
464933 ····​</​Disorder>464504 ····​</​Disorder>
464934 ····​<Disorder·​id="23208">464505 ····​<Disorder·​id="23208">
468514 ··············​<TextSectionType·​id="16907">468085 ··············​<TextSectionType·​id="16907">
468515 ················​<Name·​lang="en">Definition<​/​Name>468086 ················​<Name·​lang="en">Definition<​/​Name>
468516 ··············​</​TextSectionType>468087 ··············​</​TextSectionType>
468517 ··············​<Contents>Familial·hyperaldosteronism·type·II·(FH-​II)​·is·a·​heritable·​form·​of·​primary·​aldosteronism·​(PA)​·​characterized·​by·​hypertension·​of·​varying·​severity,​·and·​non·glucocticoid·​remediable·​hyperaldosteronism.​</​Contents>468088 ··············​<Contents>A·​heritable·​form·​of·​primary·​aldosteronism·​(PA)​·​characterized·​by·​hypertension·​of·​varying·​severity,​·​non-​glucocorticoid·​remediable·​hyperaldosteronism,​·variable·hypokalemia,​·low·plasma·renin·activity·(PRA)​·and·increased·aldosterone-​to-​renin·ratio.​</​Contents>
468518 ············​</​TextSection>468089 ············​</​TextSection>
468519 ··········​</​TextSectionList>468090 ··········​</​TextSectionList>
468520 ········​</​SummaryInformation>468091 ········​</​SummaryInformation>
468619 ··············​<TextSectionType·​id="16907">468190 ··············​<TextSectionType·​id="16907">
468620 ················​<Name·​lang="en">Definition<​/​Name>468191 ················​<Name·​lang="en">Definition<​/​Name>
468621 ··············​</​TextSectionType>468192 ··············​</​TextSectionType>
468622 ··············​<Contents>Pseudohypoa​ldosteronism·​type·​1·(PHA1)​·is·​a·primary·form·of·mineralocorticoid·resistance·​presenting·​in·​the·​newborn·​with·renal·​salt·wasting,​·failure·to·thrive·​and·dehydration.​</​Contents>468193 ··············​<Contents>A·rare,​·primary·form·of·mineralocorticoid·resistance·characterized·by·mild·to·profound·salt·wasting·either·restricted·to·the·kidney·(renal·pseudohypoaldosteroni​sm·​type·​1)​,​·or·generalized·​affecting·many·​organs·(generalized·pseudohypoaldosteroni​sm·type·1)​.​·Clinical·​presentation·is·​in·​the·neonatal·period·with·failure·to·thrive,​·vomiting·and·dehydration·​with·biochemical·findings·of·hyperkalaemia,​·metabolic·acidosis·and,​·elevated·plasma·aldosterone·​and·renin·concentration.​</​Contents>
468623 ············​</​TextSection>468194 ············​</​TextSection>
468624 ··········​</​TextSectionList>468195 ··········​</​TextSectionList>
468625 ········​</​SummaryInformation>468196 ········​</​SummaryInformation>
475510 ······​<DisorderGroup·​id="36547">475081 ······​<DisorderGroup·​id="36547">
475511 ········​<Name·​lang="en">Disorder</​Name>475082 ········​<Name·​lang="en">Disorder</​Name>
475512 ······​</​DisorderGroup>475083 ······​</​DisorderGroup>
475513 ······​<ExternalReferenceLis​t·​count="3">475084 ······​<ExternalReferenceLis​t·​count="5">
475514 ········​<ExternalReference·​id="154906">475085 ········​<ExternalReference·​id="154906">
475515 ··········​<Source>OMIM</​Source>475086 ··········​<Source>OMIM</​Source>
475516 ··········​<Reference>275355</​Reference>475087 ··········​<Reference>275355</​Reference>
475522 ············​<Name·​lang="en">Validated</​Name>475093 ············​<Name·​lang="en">Validated</​Name>
475523 ··········​</​DisorderMappingValida​tionStatus>475094 ··········​</​DisorderMappingValida​tionStatus>
475524 ········​</​ExternalReference>475095 ········​</​ExternalReference>
475525 ········​<ExternalReference·​id="194014">475096 ········​<ExternalReference·​id="200331">
475526 ··········​<Source>ICD-​10</​Source>475097 ··········​<Source>ICD-​10</​Source>
475527 ··········​<Reference>C12</​Reference>475098 ··········​<Reference>C12</​Reference>
475528 ··········​<DisorderMappingRelat​ion·​id="21541">475099 ··········​<DisorderMappingRelat​ion·​id="21541">
475531 ··········​<DisorderMappingICDRe​lation·​id="21604">475102 ··········​<DisorderMappingICDRe​lation·​id="21604">
475532 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>475103 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
475533 ··········​</​DisorderMappingICDRel​ation>475104 ··········​</​DisorderMappingICDRel​ation>
475534 ··········​<DisorderMappingValid​ationStatus·​id="21618">475105 ··········​<DisorderMappingValid​ationStatus·​id="21611">
475535 ············​<Name·​lang="en">Not·yet·validated</​Name>475106 ············​<Name·​lang="en">Validated</​Name>
475536 ··········​</​DisorderMappingValida​tionStatus>475107 ··········​</​DisorderMappingValida​tionStatus>
475537 ········​</​ExternalReference>475108 ········​</​ExternalReference>
475538 ········​<ExternalReference·​id="194015">475109 ········​<ExternalReference·​id="200332">
475539 ··········​<Source>ICD-​10</​Source>475110 ··········​<Source>ICD-​10</​Source>
475540 ··········​<Reference>C13.​8</​Reference>475111 ··········​<Reference>C13.​8</​Reference>
475541 ··········​<DisorderMappingRelat​ion·​id="21541">475112 ··········​<DisorderMappingRelat​ion·​id="21541">
475544 ··········​<DisorderMappingICDRe​lation·​id="21604">475115 ··········​<DisorderMappingICDRe​lation·​id="21604">
475545 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>475116 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
475546 ··········​</​DisorderMappingICDRel​ation>475117 ··········​</​DisorderMappingICDRel​ation>
475547 ··········​<DisorderMappingValid​ationStatus·​id="21618">475118 ··········​<DisorderMappingValid​ationStatus·​id="21611">
475548 ············​<Name·​lang="en">Not·yet·validated</​Name>475119 ············​<Name·​lang="en">Validated</​Name>
475120 ··········​</​DisorderMappingValida​tionStatus>
475121 ········​</​ExternalReference>
475122 ········​<ExternalReference·​id="200333">
475123 ··········​<Source>ICD-​10</​Source>
475124 ··········​<Reference>C13.​0</​Reference>
475125 ··········​<DisorderMappingRelat​ion·​id="21541">
475126 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
475127 ··········​</​DisorderMappingRelati​on>
475128 ··········​<DisorderMappingICDRe​lation·​id="21604">
475129 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
475130 ··········​</​DisorderMappingICDRel​ation>
475131 ··········​<DisorderMappingValid​ationStatus·​id="21611">
475132 ············​<Name·​lang="en">Validated</​Name>
475133 ··········​</​DisorderMappingValida​tionStatus>
475134 ········​</​ExternalReference>
475135 ········​<ExternalReference·​id="200330">
475136 ··········​<Source>ICD-​10</​Source>
475137 ··········​<Reference>C13.​2</​Reference>
475138 ··········​<DisorderMappingRelat​ion·​id="21541">
475139 ············​<Name·​lang="en">BTNT·​(ORPHA·​code's·​Broader·​Term·​maps·​to·​a·​Narrower·​Term)​</​Name>
475140 ··········​</​DisorderMappingRelati​on>
475141 ··········​<DisorderMappingICDRe​lation·​id="21604">
475142 ············​<Name·​lang="en">Attributed·​(The·​ICD10·​code·​is·​attributed·​by·​Orphanet)​</​Name>
475143 ··········​</​DisorderMappingICDRel​ation>
475144 ··········​<DisorderMappingValid​ationStatus·​id="21611">
475145 ············​<Name·​lang="en">Validated</​Name>
475549 ··········​</​DisorderMappingValida​tionStatus>475146 ··········​</​DisorderMappingValida​tionStatus>
475550 ········​</​ExternalReference>475147 ········​</​ExternalReference>
475551 ······​</​ExternalReferenceList​>475148 ······​</​ExternalReferenceList​>
485195 ··············​<TextSectionType·​id="16907">484792 ··············​<TextSectionType·​id="16907">
485196 ················​<Name·​lang="en">Definition<​/​Name>484793 ················​<Name·​lang="en">Definition<​/​Name>
485197 ··············​</​TextSectionType>484794 ··············​</​TextSectionType>
485198 ··············​<Contents>Severe·hypoplasminogenemia·(HPG)​·or·type·1·plasminogen·(plg)​·deficiency·is·a·systemic·​disease·​characterised·​by·​markedly·​impaired·​extracellular·​fibrinolysis·​leading·​to·​the·​formation·​of·​ligneous·​(fibrin-​rich)​·​pseudomembranes·​on·​mucosae·during·wound·healing.​</​Contents>484795 ··············​<Contents>A·rare·​multi-​system·​disease·​characterized·​by·​markedly·​impaired·​extracellular·​fibrinolysis·​leading·​to·​the·​formation·​of·​ligneous·​(fibrin-​rich)​·​pseudomembranes·​on·​mucosae.​</​Contents>
485199 ············​</​TextSection>484796 ············​</​TextSection>
485200 ··········​</​TextSectionList>484797 ··········​</​TextSectionList>
485201 ········​</​SummaryInformation>484798 ········​</​SummaryInformation>
486843 ··············​<TextSectionType·​id="16907">486440 ··············​<TextSectionType·​id="16907">
486844 ················​<Name·​lang="en">Definition<​/​Name>486441 ················​<Name·​lang="en">Definition<​/​Name>
486845 ··············​</​TextSectionType>486442 ··············​</​TextSectionType>
486846 ··············​<Contents>A·​rare,​·​congenital,​·​non-​syndromic,​·​developmental·​defect·​during·​embryogenesis·​characterized·​by·​positioning·​of·​the·​heart·​in·​the·​right·​hemithorax,​·​with·​the·​base·​and·​apex·​of·​the·​heart·​pointing·​caudally·​and·​to·​the·​right,​·​due·​to·​abnormalities·​of·​embryologic·​origin·​that·​are·​intrinsic·​to·​the·​heart·​itself.​·​Situs·​inversus·​or·​situs·​solitus·​may·​be·​associated,​·​with·​extracardiac·​visceral·​transposition·​anomalies·​usually·​present·​in·​the·​former·​case·​and·​additional·​cardiac·​defects·​(e.​g.​·​septal·​defects,​·​transposition·​of·​the·​great·​arteries,​·​double-​outlet·​right·​ventricles,​·​anomalous·​pulmonary·​venous·​return,​·​tetralogy·​of·​Fallot)​·​frequently·​observed·​in·​both·​cases.​</​Contents>486443 ··············​<Contents>A·​rare,​·​congenital,​·​non-​syndromic,​·​developmental·​defect·​during·​embryogenesis·​characterized·​by·​positioning·​of·​the·​heart·​in·​the·​right·​hemithorax,​·​with·​the·​base·​and·​apex·​of·​the·​heart·​pointing·​caudally·​and·​to·​the·​right,​·​due·​to·​abnormalities·​of·​embryologic·​origin·​that·​are·​intrinsic·​to·​the·​heart·​itself.​·​Situs·​inversus·​or·​situs·​solitus·​may·​be·​associated,​·​with·​extracardiac·​visceral·​transposition·​anomalies·​usually·​present·​in·​the·​former·​case·​and·​additional·​cardiac·​defects·​(e.​g.​·​septal·​defects,​·​transposition·​of·​the·​great·​arteries,​·​double-​outlet·​right·​ventricle,​·​anomalous·​pulmonary·​venous·​return,​·​tetralogy·​of·​Fallot)​·​frequently·​observed·​in·​both·​cases.​</​Contents>
486847 ············​</​TextSection>486444 ············​</​TextSection>
486848 ··········​</​TextSectionList>486445 ··········​</​TextSectionList>
486849 ········​</​SummaryInformation>486446 ········​</​SummaryInformation>
488616 ··············​<TextSectionType·​id="16907">488213 ··············​<TextSectionType·​id="16907">
488617 ················​<Name·​lang="en">Definition<​/​Name>488214 ················​<Name·​lang="en">Definition<​/​Name>
488618 ··············​</​TextSectionType>488215 ··············​</​TextSectionType>
488619 ··············​<Contents>A·​rare·​genetic·​disease·​characterized·​by·​infantile·​or·​childhood·​onset·​of·​abnormal·​growth·​of·​hyalinized·​fibrous·​tissue,​·​giving·​rise·​to·​multiple·​cutaneous·​nodules·​and/​or·​pearly·​papules·​predominantly·​affecting·​the·​scalp,​·​ears,​·​neck,​·​face,​·​hands,​·​and·​feet.​·​Involvement·​of·​other·​organs·​results·​in·​gingiva·​hyperplasia,​·​osteolytic·​bone·​lesions,​·​and·​joint·​contractures.​·​Some·​patients·​exhibit·​visceral·​involvement·​with·​intractable·​diarrhea,​·​increased·​susceptibility·​to·​infections,​·​and·​severe·​failure·​to·​thrive.​</​Contents>488216 ··············​<Contents>A·​rare·​genetic·​disease·​characterized·​by·​infantile·​or·​childhood·​onset·​of·​abnormal·​growth·​of·​hyalinized·​fibrous·​tissue,​·​giving·​rise·​to·​multiple·​cutaneous·​nodules·​and/​or·​pearly·​papules·​predominantly·​affecting·​the·​scalp,​·​ears,​·​neck,​·​face,​·​hands,​·​and·​feet.​·​Involvement·​of·​other·​organs·​results·​in·​gingival·​hyperplasia,​·​osteolytic·​bone·​lesions,​·​and·​joint·​contractures.​·​Some·​patients·​exhibit·​visceral·​involvement·​with·​intractable·​diarrhea,​·​increased·​susceptibility·​to·​infections,​·​and·​severe·​failure·​to·​thrive.​</​Contents>
488620 ············​</​TextSection>488217 ············​</​TextSection>
488621 ··········​</​TextSectionList>488218 ··········​</​TextSectionList>
488622 ········​</​SummaryInformation>488219 ········​</​SummaryInformation>
491758 ······​</​ExternalReferenceList​>491355 ······​</​ExternalReferenceList​>
491759 ······​<DisorderDisorderAsso​ciationList·​count="0">491356 ······​<DisorderDisorderAsso​ciationList·​count="0">
491760 ······​</​DisorderDisorderAssoc​iationList>491357 ······​</​DisorderDisorderAssoc​iationList>
491761 ······​<SummaryInformationLi​st·​count="1">491358 ······​<SummaryInformationLi​st·​count="0">
491762 ········<SummaryInformation·id="-​1"·lang="en">
491763 ··········<TextSectionList·count="0">
491764 ··········</​TextSectionList>
491765 ··········<TextAuto>
491766 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
491767 ··········</​TextAuto>
491768 ········</​SummaryInformation>
491769 ······​</​SummaryInformationLis​t>491359 ······​</​SummaryInformationLis​t>
491770 ····​</​Disorder>491360 ····​</​Disorder>
491771 ····​<Disorder·​id="25312">491361 ····​<Disorder·​id="25312">
496054 ······​</​ExternalReferenceList​>495644 ······​</​ExternalReferenceList​>
496055 ······​<DisorderDisorderAsso​ciationList·​count="0">495645 ······​<DisorderDisorderAsso​ciationList·​count="0">
496056 ······​</​DisorderDisorderAssoc​iationList>495646 ······​</​DisorderDisorderAssoc​iationList>
496057 ······​<SummaryInformationLi​st·​count="1">495647 ······​<SummaryInformationLi​st·​count="0">
496058 ········<SummaryInformation·id="-​1"·lang="en">
496059 ··········<TextSectionList·count="0">
496060 ··········</​TextSectionList>
496061 ··········<TextAuto>
496062 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
496063 ··········</​TextAuto>
496064 ········</​SummaryInformation>
496065 ······​</​SummaryInformationLis​t>495648 ······​</​SummaryInformationLis​t>
496066 ····​</​Disorder>495649 ····​</​Disorder>
496067 ····​<Disorder·​id="25148">495650 ····​<Disorder·​id="25148">
496086 ······​</​ExternalReferenceList​>495669 ······​</​ExternalReferenceList​>
496087 ······​<DisorderDisorderAsso​ciationList·​count="0">495670 ······​<DisorderDisorderAsso​ciationList·​count="0">
496088 ······​</​DisorderDisorderAssoc​iationList>495671 ······​</​DisorderDisorderAssoc​iationList>
496089 ······​<SummaryInformationLi​st·​count="1">495672 ······​<SummaryInformationLi​st·​count="0">
496090 ········<SummaryInformation·id="-​1"·lang="en">
496091 ··········<TextSectionList·count="0">
496092 ··········</​TextSectionList>
496093 ··········<TextAuto>
496094 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
496095 ··········</​TextAuto>
496096 ········</​SummaryInformation>
496097 ······​</​SummaryInformationLis​t>495673 ······​</​SummaryInformationLis​t>
496098 ····​</​Disorder>495674 ····​</​Disorder>
496099 ····​<Disorder·​id="25150">495675 ····​<Disorder·​id="25150">
496179 ······​</​ExternalReferenceList​>495755 ······​</​ExternalReferenceList​>
496180 ······​<DisorderDisorderAsso​ciationList·​count="0">495756 ······​<DisorderDisorderAsso​ciationList·​count="0">
496181 ······​</​DisorderDisorderAssoc​iationList>495757 ······​</​DisorderDisorderAssoc​iationList>
496182 ······​<SummaryInformationLi​st·​count="1">495758 ······​<SummaryInformationLi​st·​count="0">
496183 ········<SummaryInformation·id="-​1"·lang="en">
496184 ··········<TextSectionList·count="0">
496185 ··········</​TextSectionList>
496186 ··········<TextAuto>
496187 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
496188 ··········</​TextAuto>
496189 ········</​SummaryInformation>
496190 ······​</​SummaryInformationLis​t>495759 ······​</​SummaryInformationLis​t>
496191 ····​</​Disorder>495760 ····​</​Disorder>
496192 ····​<Disorder·​id="25091">495761 ····​<Disorder·​id="25091">
496247 ······​</​ExternalReferenceList​>495816 ······​</​ExternalReferenceList​>
496248 ······​<DisorderDisorderAsso​ciationList·​count="0">495817 ······​<DisorderDisorderAsso​ciationList·​count="0">
496249 ······​</​DisorderDisorderAssoc​iationList>495818 ······​</​DisorderDisorderAssoc​iationList>
496250 ······​<SummaryInformationLi​st·​count="1">495819 ······​<SummaryInformationLi​st·​count="0">
496251 ········<SummaryInformation·id="-​1"·lang="en">
496252 ··········<TextSectionList·count="0">
496253 ··········</​TextSectionList>
496254 ··········<TextAuto>
496255 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
496256 ··········</​TextAuto>
496257 ········</​SummaryInformation>
496258 ······​</​SummaryInformationLis​t>495820 ······​</​SummaryInformationLis​t>
496259 ····​</​Disorder>495821 ····​</​Disorder>
496260 ····​<Disorder·​id="25089">495822 ····​<Disorder·​id="25089">
496342 ······​</​ExternalReferenceList​>495904 ······​</​ExternalReferenceList​>
496343 ······​<DisorderDisorderAsso​ciationList·​count="0">495905 ······​<DisorderDisorderAsso​ciationList·​count="0">
496344 ······​</​DisorderDisorderAssoc​iationList>495906 ······​</​DisorderDisorderAssoc​iationList>
496345 ······​<SummaryInformationLi​st·​count="1">495907 ······​<SummaryInformationLi​st·​count="0">
496346 ········<SummaryInformation·id="-​1"·lang="en">
496347 ··········<TextSectionList·count="0">
496348 ··········</​TextSectionList>
496349 ··········<TextAuto>
496350 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
496351 ··········</​TextAuto>
496352 ········</​SummaryInformation>
496353 ······​</​SummaryInformationLis​t>495908 ······​</​SummaryInformationLis​t>
496354 ····​</​Disorder>495909 ····​</​Disorder>
496355 ····​<Disorder·​id="25093">495910 ····​<Disorder·​id="25093">
508067 ······​</​ExternalReferenceList​>507622 ······​</​ExternalReferenceList​>
508068 ······​<DisorderDisorderAsso​ciationList·​count="0">507623 ······​<DisorderDisorderAsso​ciationList·​count="0">
508069 ······​</​DisorderDisorderAssoc​iationList>507624 ······​</​DisorderDisorderAssoc​iationList>
508070 ······​<SummaryInformationLi​st·​count="1">507625 ······​<SummaryInformationLi​st·​count="0">
508071 ········<SummaryInformation·id="-​1"·lang="en">
508072 ··········<TextSectionList·count="0">
508073 ··········</​TextSectionList>
508074 ··········<TextAuto>
508075 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
508076 ··········</​TextAuto>
508077 ········</​SummaryInformation>
508078 ······​</​SummaryInformationLis​t>507626 ······​</​SummaryInformationLis​t>
508079 ····​</​Disorder>507627 ····​</​Disorder>
508080 ····​<Disorder·​id="10851">507628 ····​<Disorder·​id="10851">
510054 ··············​<TextSectionType·​id="16907">509602 ··············​<TextSectionType·​id="16907">
510055 ················​<Name·​lang="en">Definition<​/​Name>509603 ················​<Name·​lang="en">Definition<​/​Name>
510056 ··············​</​TextSectionType>509604 ··············​</​TextSectionType>
510057 ··············​<Contents>A·​rare·disorder·​characterized·by·sclerosis·of·the·intrahepatic·​portal·veins,​·non-​cirrhotic·portal·hypertension,​·asymptomatic·splenomegaly·and·recurrent·variceal·bleeding.​</​Contents>509605 ··············​<Contents>A·form·of·portosinusoidal·vascular·disease·​characterized·histologically·by·varying·degrees·of·​phlebosclerosis,​·primarily·involving·the·small·and·medium·branches·of·the·portal·vein·with·heterogeneous·distribution,​·in·the·absence·of·cirrhosis.​</​Contents>
510058 ············​</​TextSection>509606 ············​</​TextSection>
510059 ··········​</​TextSectionList>509607 ··········​</​TextSectionList>
510060 ········​</​SummaryInformation>509608 ········​</​SummaryInformation>
510383 ······​</​ExternalReferenceList​>509931 ······​</​ExternalReferenceList​>
510384 ······​<DisorderDisorderAsso​ciationList·​count="0">509932 ······​<DisorderDisorderAsso​ciationList·​count="0">
510385 ······​</​DisorderDisorderAssoc​iationList>509933 ······​</​DisorderDisorderAssoc​iationList>
510386 ······​<SummaryInformationLi​st·​count="1">509934 ······​<SummaryInformationLi​st·​count="0">
510387 ········<SummaryInformation·id="-​1"·lang="en">
510388 ··········<TextSectionList·count="0">
510389 ··········</​TextSectionList>
510390 ··········<TextAuto>
510391 ············<Info·lang="en">This·disease·is·not·rare·in·Europe.​·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.​</​Info>
510392 ··········</​TextAuto>
510393 ········</​SummaryInformation>
510394 ······​</​SummaryInformationLis​t>509935 ······​</​SummaryInformationLis​t>
510395 ····​</​Disorder>509936 ····​</​Disorder>
510396 ····​<Disorder·​id="10818">509937 ····​<Disorder·​id="10818">
511068 ······​</​ExternalReferenceList​>510609 ······​</​ExternalReferenceList​>
511069 ······​<DisorderDisorderAsso​ciationList·​count="0">510610 ······​<DisorderDisorderAsso​ciationList·​count="0">
511070 ······​</​DisorderDisorderAssoc​iationList>510611 ······​</​DisorderDisorderAssoc​iationList>
511071 ······​<SummaryInformationLi​st·​count="1">510612 ······​<SummaryInformationLi​st·​count="0">
511072 ········<SummaryInformation·id="-​1"·lang="en">
511073 ··········<TextSectionList·count="0">
511074 ··········</​TextSectionList>
511075 ··········<TextAuto>
511076 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
511077 ··········</​TextAuto>
511078 ········</​SummaryInformation>
511079 ······​</​SummaryInformationLis​t>510613 ······​</​SummaryInformationLis​t>
511080 ····​</​Disorder>510614 ····​</​Disorder>
511081 ····​<Disorder·​id="10827">510615 ····​<Disorder·​id="10827">
511193 ······​</​ExternalReferenceList​>510727 ······​</​ExternalReferenceList​>
511194 ······​<DisorderDisorderAsso​ciationList·​count="0">510728 ······​<DisorderDisorderAsso​ciationList·​count="0">
511195 ······​</​DisorderDisorderAssoc​iationList>510729 ······​</​DisorderDisorderAssoc​iationList>
511196 ······​<SummaryInformationLi​st·​count="1">510730 ······​<SummaryInformationLi​st·​count="0">
511197 ········<SummaryInformation·id="-​1"·lang="en">
511198 ··········<TextSectionList·count="0">
511199 ··········</​TextSectionList>
511200 ··········<TextAuto>
511201 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
511202 ··········</​TextAuto>
511203 ········</​SummaryInformation>
511204 ······​</​SummaryInformationLis​t>510731 ······​</​SummaryInformationLis​t>
511205 ····​</​Disorder>510732 ····​</​Disorder>
511206 ····​<Disorder·​id="10825">510733 ····​<Disorder·​id="10825">
520385 ······​</​ExternalReferenceList​>519912 ······​</​ExternalReferenceList​>
520386 ······​<DisorderDisorderAsso​ciationList·​count="0">519913 ······​<DisorderDisorderAsso​ciationList·​count="0">
520387 ······​</​DisorderDisorderAssoc​iationList>519914 ······​</​DisorderDisorderAssoc​iationList>
520388 ······​<SummaryInformationLi​st·​count="1">519915 ······​<SummaryInformationLi​st·​count="0">
520389 ········<SummaryInformation·id="-​1"·lang="en">
520390 ··········<TextSectionList·count="0">
520391 ··········</​TextSectionList>
520392 ··········<TextAuto>
520393 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
520394 ··········</​TextAuto>
520395 ········</​SummaryInformation>
520396 ······​</​SummaryInformationLis​t>519916 ······​</​SummaryInformationLis​t>
520397 ····​</​Disorder>519917 ····​</​Disorder>
520398 ····​<Disorder·​id="11189">519918 ····​<Disorder·​id="11189">
526220 ··············​<TextSectionType·​id="16907">525740 ··············​<TextSectionType·​id="16907">
526221 ················​<Name·​lang="en">Definition<​/​Name>525741 ················​<Name·​lang="en">Definition<​/​Name>
526222 ··············​</​TextSectionType>525742 ··············​</​TextSectionType>
526223 ··············​<Contents>Central·areolar·choroidal·dystrophy·(CACD)​·is·a·​hereditary·​macular·​disorder,​·​usually·​presenting·​between·​the·​ages·​of·​30-​60,​·​characterized·​by·​a·​large·​area·​of·​atrophy·​in·​the·​centre·​of·​the·​macula·​and·​the·​loss·​or·​absence·​of·​photoreceptors,​·​retinal·​pigment·​epithelium·​and·​choriocapillaris·​in·​this·​area,​·​resulting·​in·​a·​progressive·​decrease·​in·​visual·​acuity.​</​Contents>525743 ··············​<Contents>A·​hereditary·​macular·​disorder,​·​usually·​presenting·​between·​the·​ages·​of·​30-​60,​·​characterized·​by·​a·​large·​area·​of·​atrophy·​in·​the·​centre·​of·​the·​macula·​and·​the·​loss·​or·​absence·​of·​photoreceptors,​·​retinal·​pigment·​epithelium·​and·​choriocapillaris·​in·​this·​area,​·​resulting·​in·​a·​progressive·​decrease·​in·​visual·​acuity.​</​Contents>
526224 ············​</​TextSection>525744 ············​</​TextSection>
526225 ··········​</​TextSectionList>525745 ··········​</​TextSectionList>
526226 ········​</​SummaryInformation>525746 ········​</​SummaryInformation>
529187 ··········​<Value>8192</​Value>528707 ··········​<Value>8192</​Value>
529188 ··········​<Label>Inactive</​Label>528708 ··········​<Label>Inactive</​Label>
529189 ········​</​DisorderFlag>528709 ········​</​DisorderFlag>
529190 ········​<DisorderFlag·​id="461">528710 ········​<DisorderFlag·​id="455">
529191 ··········​<Value>1024</​Value>528711 ··········​<Value>16</​Value>
529192 ··········​<Label>Obsolete·with·resources</​Label>528712 ··········​<Label>Obsolete·​entity</​Label>
529193 ········​</​DisorderFlag>528713 ········​</​DisorderFlag>
529194 ······​</​DisorderFlagList>528714 ······​</​DisorderFlagList>
529195 ······​<SynonymList·​count="0">528715 ······​<SynonymList·​count="0">
532730 ······​</​ExternalReferenceList​>532250 ······​</​ExternalReferenceList​>
532731 ······​<DisorderDisorderAsso​ciationList·​count="0">532251 ······​<DisorderDisorderAsso​ciationList·​count="0">
532732 ······​</​DisorderDisorderAssoc​iationList>532252 ······​</​DisorderDisorderAssoc​iationList>
532733 ······​<SummaryInformationLi​st·​count="1">532253 ······​<SummaryInformationLi​st·​count="0">
532734 ········<SummaryInformation·id="-​1"·lang="en">
532735 ··········<TextSectionList·count="0">
532736 ··········</​TextSectionList>
532737 ··········<TextAuto>
532738 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
532739 ··········</​TextAuto>
532740 ········</​SummaryInformation>
532741 ······​</​SummaryInformationLis​t>532254 ······​</​SummaryInformationLis​t>
532742 ····​</​Disorder>532255 ····​</​Disorder>
532743 ····​<Disorder·​id="27660">532256 ····​<Disorder·​id="27660">
533218 ··············​<TextSectionType·​id="16907">532731 ··············​<TextSectionType·​id="16907">
533219 ················​<Name·​lang="en">Definition<​/​Name>532732 ················​<Name·​lang="en">Definition<​/​Name>
533220 ··············​</​TextSectionType>532733 ··············​</​TextSectionType>
533221 ··············​<Contents>A·​rare·​non-​infectious,​·​chronic·​and·​most·​often·​progressive·​disease·​of·​the·​urinary·​bladder.​·​It·​is·​characterized·​by·​varying·​combinations·​and·​extent·​of·​pain,​·​urinary·​frequency·​(pollakisuria)​,​·​nocturia·​and·​urgencyInterstitial·​cystitis·​(IC)​·​has·​a·​broad·​intersection·​with·​Bladder·​Pain·​Syndrome·​(BPS)​·​and·​Overactive·​Bladder·​(OAB)​.​</​Contents>532734 ··············​<Contents>A·​rare·​non-​infectious,​·​chronic·​and·​most·​often·​progressive·​disease·​of·​the·​urinary·​bladder.​·​It·​is·​characterized·​by·​varying·​combinations·​and·​extent·​of·​pain,​·​urinary·​frequency·​(pollakisuria)​,​·​nocturia·​and·​urgency.​·Interstitial·​cystitis·​(IC)​·​has·​a·​broad·​intersection·​with·​Bladder·​Pain·​Syndrome·​(BPS)​·​and·​Overactive·​Bladder·​(OAB)​.​</​Contents>
533222 ············​</​TextSection>532735 ············​</​TextSection>
533223 ··········​</​TextSectionList>532736 ··········​</​TextSectionList>
533224 ········​</​SummaryInformation>532737 ········​</​SummaryInformation>
533797 ······​</​ExternalReferenceList​>533310 ······​</​ExternalReferenceList​>
533798 ······​<DisorderDisorderAsso​ciationList·​count="0">533311 ······​<DisorderDisorderAsso​ciationList·​count="0">
533799 ······​</​DisorderDisorderAssoc​iationList>533312 ······​</​DisorderDisorderAssoc​iationList>
533800 ······​<SummaryInformationLi​st·​count="1">533313 ······​<SummaryInformationLi​st·​count="0">
533801 ········<SummaryInformation·id="-​1"·lang="en">
533802 ··········<TextSectionList·count="0">
533803 ··········</​TextSectionList>
533804 ··········<TextAuto>
533805 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
533806 ··········</​TextAuto>
533807 ········</​SummaryInformation>
533808 ······​</​SummaryInformationLis​t>533314 ······​</​SummaryInformationLis​t>
533809 ····​</​Disorder>533315 ····​</​Disorder>
533810 ····​<Disorder·​id="10475">533316 ····​<Disorder·​id="10475">
544868 ··············​<TextSectionType·​id="16907">544374 ··············​<TextSectionType·​id="16907">
544869 ················​<Name·​lang="en">Definition<​/​Name>544375 ················​<Name·​lang="en">Definition<​/​Name>
544870 ··············​</​TextSectionType>544376 ··············​</​TextSectionType>
544871 ··············​<Contents>A·​rare·​genetic·​skeletal·​muscle·​disease·​characterized·​by·​childhood·​onset·​of·​exercise-​induced·​progressive·​impairment·​of·​muscle·​relaxation,​·​stiffness,​·​cramps,​·​and·​myalgia,​·​predominantly·​in·​the·​arms,​·​legs,​·​and·​face·​(eyelids)​,​·​and,​·​biochemically,​·​by·​a·​reduced·​sarcoplasmic·​reticulum·​Ca(2+)​-​ATPase·​activity.​·​Symptoms·​improve·​after·​a·​few·​minutes·​of·​rest·​and·​may·​be·​exacerbated·​by·​cold.​·​The·​term·​Brody·​syndrome·​refers·​to·​a·​clinically·​distinguishable·​subset·​of·​patients·​without·​ATP2A1·​mutations,​·​with·​adolescence·​or·​adult·​onset·​and·​selective·​muscular·​involvement,​·​in·​which·​myalgia·​is·​more·​common.​</​Contents>544377 ··············​<Contents>A·​rare·​genetic·​skeletal·​muscle·​disease·​characterized·​by·​childhood·​onset·​of·​exercise-​induced·​progressive·​impairment·​of·​muscle·​relaxation,​·​stiffness,​·​cramps,​·​and·​myalgia,​·​predominantly·​in·​the·​arms,​·​legs,​·​and·​face·​(eyelids)​,​·​and,​·​biochemically,​·​by·​a·​reduced·​sarcoplasmic·​reticulum·​Ca(2+)​-​ATPase·​activity.​·​Symptoms·​improve·​after·​a·​few·​minutes·​of·​rest·​and·​may·​be·​exacerbated·​by·​cold.​·​The·​term·​Brody·​syndrome·​refers·​to·​a·​clinically·​distinguishable·​subset·​of·​patients·​without·&lt;​i&gt;​ATP2A1&lt;​/​i&gt;​·​mutations,​·​with·​adolescence·​or·​adult·​onset·​and·​selective·​muscular·​involvement,​·​in·​which·​myalgia·​is·​more·​common.​</​Contents>
544872 ············​</​TextSection>544378 ············​</​TextSection>
544873 ··········​</​TextSectionList>544379 ··········​</​TextSectionList>
544874 ········​</​SummaryInformation>544380 ········​</​SummaryInformation>
546563 ··········​</​DisorderDisorderAssoc​iationType>546069 ··········​</​DisorderDisorderAssoc​iationType>
546564 ········​</​DisorderDisorderAssoc​iation>546070 ········​</​DisorderDisorderAssoc​iation>
546565 ······​</​DisorderDisorderAssoc​iationList>546071 ······​</​DisorderDisorderAssoc​iationList>
546566 ······​<SummaryInformationLi​st·​count="1">546072 ······​<SummaryInformationLi​st·​count="0">
546567 ········<SummaryInformation·id="-​1"·lang="en">
546568 ··········<TextSectionList·count="0">
546569 ··········</​TextSectionList>
546570 ··········<TextAuto>
546571 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
546572 ··········</​TextAuto>
546573 ········</​SummaryInformation>
546574 ······​</​SummaryInformationLis​t>546073 ······​</​SummaryInformationLis​t>
546575 ····​</​Disorder>546074 ····​</​Disorder>
546576 ····​<Disorder·​id="10745">546075 ····​<Disorder·​id="10745">
553767 ······​</​ExternalReferenceList​>553266 ······​</​ExternalReferenceList​>
553768 ······​<DisorderDisorderAsso​ciationList·​count="0">553267 ······​<DisorderDisorderAsso​ciationList·​count="0">
553769 ······​</​DisorderDisorderAssoc​iationList>553268 ······​</​DisorderDisorderAssoc​iationList>
553770 ······​<SummaryInformationLi​st·​count="1">553269 ······​<SummaryInformationLi​st·​count="0">
553771 ········<SummaryInformation·id="-​1"·lang="en">
553772 ··········<TextSectionList·count="0">
553773 ··········</​TextSectionList>
553774 ··········<TextAuto>
553775 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
553776 ··········</​TextAuto>
553777 ········</​SummaryInformation>
553778 ······​</​SummaryInformationLis​t>553270 ······​</​SummaryInformationLis​t>
553779 ····​</​Disorder>553271 ····​</​Disorder>
553780 ····​<Disorder·​id="10607">553272 ····​<Disorder·​id="10607">
554356 ··············​<TextSectionType·​id="16907">553848 ··············​<TextSectionType·​id="16907">
554357 ················​<Name·​lang="en">Definition<​/​Name>553849 ················​<Name·​lang="en">Definition<​/​Name>
554358 ··············​</​TextSectionType>553850 ··············​</​TextSectionType>
554359 ··············​<Contents>Nodular·regenerative·hyperplasia·of·the·liver·is·a·rare·parenchymatous·liver·​disease·​characterized·by·diffuse·benign·transformation·of·the·hepatic·parenchyma·into·multiple·small·nodules·(composed·of·regenerating·hepatocytes)​·and·that·is·usually·asymptomatic·​but·can·lead·to·​the·development·​of·non-​cirrhotic·portal·hypertension·and·its·complications,​·including·esophageal·variceal·​bleeding,​·hypersplenism·and·ascites.​·It·is·often·associated·with·rheumatologic,​·autoimmune,​·hematologic,​·and·myeloproliferative·disorders·as·well·as·various·immune·deficiency·states·and·exposure·certain·drugs·and·toxins.​</​Contents>553851 ··············​<Contents>A·form·of·portosinusoidal·vascular·​disease·​characterized·​histologically·​by·​the·absence·​of·​cirrhosis·​and·​diffuse·​benign·transformation·​of·​the·hepatic·parenchyma·into·multiple·​small·​nodules·(typically·1-​3·mm)​.​</​Contents>
554360 ············​</​TextSection>553852 ············​</​TextSection>
554361 ··········​</​TextSectionList>553853 ··········​</​TextSectionList>
554362 ········​</​SummaryInformation>553854 ········​</​SummaryInformation>
556797 ······​</​ExternalReferenceList​>556289 ······​</​ExternalReferenceList​>
556798 ······​<DisorderDisorderAsso​ciationList·​count="0">556290 ······​<DisorderDisorderAsso​ciationList·​count="0">
556799 ······​</​DisorderDisorderAssoc​iationList>556291 ······​</​DisorderDisorderAssoc​iationList>
556800 ······​<SummaryInformationLi​st·​count="1">556292 ······​<SummaryInformationLi​st·​count="0">
556801 ········<SummaryInformation·id="-​1"·lang="en">
556802 ··········<TextSectionList·count="0">
556803 ··········</​TextSectionList>
556804 ··········<TextAuto>
556805 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
556806 ··········</​TextAuto>
556807 ········</​SummaryInformation>
556808 ······​</​SummaryInformationLis​t>556293 ······​</​SummaryInformationLis​t>
556809 ····​</​Disorder>556294 ····​</​Disorder>
556810 ····​<Disorder·​id="28123">556295 ····​<Disorder·​id="28123">
557798 ······​</​ExternalReferenceList​>557283 ······​</​ExternalReferenceList​>
557799 ······​<DisorderDisorderAsso​ciationList·​count="0">557284 ······​<DisorderDisorderAsso​ciationList·​count="0">
557800 ······​</​DisorderDisorderAssoc​iationList>557285 ······​</​DisorderDisorderAssoc​iationList>
557801 ······​<SummaryInformationLi​st·​count="1">557286 ······​<SummaryInformationLi​st·​count="0">
557802 ········<SummaryInformation·id="-​1"·lang="en">
557803 ··········<TextSectionList·count="0">
557804 ··········</​TextSectionList>
557805 ··········<TextAuto>
557806 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
557807 ··········</​TextAuto>
557808 ········</​SummaryInformation>
557809 ······​</​SummaryInformationLis​t>557287 ······​</​SummaryInformationLis​t>
557810 ····​</​Disorder>557288 ····​</​Disorder>
557811 ····​<Disorder·​id="27249">557289 ····​<Disorder·​id="27249">
563247 ··············​<TextSectionType·​id="16907">562725 ··············​<TextSectionType·​id="16907">
563248 ················​<Name·​lang="en">Definition<​/​Name>562726 ················​<Name·​lang="en">Definition<​/​Name>
563249 ··············​</​TextSectionType>562727 ··············​</​TextSectionType>
563250 ··············​<Contents>Infantile·Bartter·syndrome·with·deafness,​·a·phenotypic·variant·​of·​Bartter·​syndrome·(see·this·term)​·is·​characterized·​by·​maternal·​polyhydramnios,​·​premature·​delivery,​·​polyuria·​and·​sensorineural·​deafness·and·is·​associated·​with·​hypokalemic·​alkalosis,​·​increased·​levels·​of·​plasma·​renin·​and·​aldosterone,​·​low·​blood·​pressure,​·​and·vascular·​resistance·to·angiotensin·II.​</​Contents>562728 ··············​<Contents>A·​form·​of·​Bartter·​syndrome·​characterized·​by·​maternal·​polyhydramnios,​·​premature·​delivery,​·salt·loss,​·​polyuria·​and·​sensorineural·​deafness,​·​associated·​with·​hypokalemic·and·hypochloremic·metabolic·​alkalosis,​·​increased·​levels·​of·​plasma·​renin·​and·​aldosterone,​·and·​low·to·normal·​blood·​pressure.​·Urinary·calcium·excretion·​rates·are·variable,​·and·nephrocalcinosis·is·typically·absent.​</​Contents>
563251 ············​</​TextSection>562729 ············​</​TextSection>
563252 ··········​</​TextSectionList>562730 ··········​</​TextSectionList>
563253 ········​</​SummaryInformation>562731 ········​</​SummaryInformation>
566802 ······​</​ExternalReferenceList​>566280 ······​</​ExternalReferenceList​>
566803 ······​<DisorderDisorderAsso​ciationList·​count="0">566281 ······​<DisorderDisorderAsso​ciationList·​count="0">
566804 ······​</​DisorderDisorderAssoc​iationList>566282 ······​</​DisorderDisorderAssoc​iationList>
566805 ······​<SummaryInformationLi​st·​count="1">566283 ······​<SummaryInformationLi​st·​count="0">
566806 ········<SummaryInformation·id="-​1"·lang="en">
566807 ··········<TextSectionList·count="0">
566808 ··········</​TextSectionList>
566809 ··········<TextAuto>
566810 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
566811 ··········</​TextAuto>
566812 ········</​SummaryInformation>
566813 ······​</​SummaryInformationLis​t>566284 ······​</​SummaryInformationLis​t>
566814 ····​</​Disorder>566285 ····​</​Disorder>
566815 ····​<Disorder·​id="11981">566286 ····​<Disorder·​id="11981">
572986 ··············​<TextSectionType·​id="16907">572457 ··············​<TextSectionType·​id="16907">
572987 ················​<Name·​lang="en">Definition<​/​Name>572458 ················​<Name·​lang="en">Definition<​/​Name>
572988 ··············​</​TextSectionType>572459 ··············​</​TextSectionType>
572989 ··············​<Contents>A·​rare·​genetic·​neurological·​disorder·​characterized·​by·​the·​association·​of·​congenital·​spastic·​paraplegia·​with·​global·​developmental·​delay·​and·​intellectual·​disability,​·​ophthalmologic·​abnormalities·​(including·​nystagmus,​·​reduced·​visual·​acuity,​·​or·​hypermetropia)​,​·​and·​obesity.​·​Additional·​manifestations·​are·​brachyplagiocephaly·​and·​dysmorphic·​facial·​features.​·​Brain·​imaging·​may·​show·​dilated·​ventricles,​·​abnormal·​myelination,​·​and·​mild·​generalized·​atrophy.​·​Homozygous·​loss-​of-​function·​variants·​of·​KIDINS220·​associated·​with·​a·​fetal·​lethal·​phenotype·​with·​ventriculomegaly·​and·​limb·​contractures·​have·​been·​reported.​</​Contents>572460 ··············​<Contents>A·​rare·​genetic·​neurological·​disorder·​characterized·​by·​the·​association·​of·​congenital·​spastic·​paraplegia·​with·​global·​developmental·​delay·​and·​intellectual·​disability,​·​ophthalmologic·​abnormalities·​(including·​nystagmus,​·​reduced·​visual·​acuity,​·​or·​hypermetropia)​,​·​and·​obesity.​·​Additional·​manifestations·​are·​brachyplagiocephaly·​and·​dysmorphic·​facial·​features.​·​Brain·​imaging·​may·​show·​dilated·​ventricles,​·​abnormal·​myelination,​·​and·​mild·​generalized·​atrophy.​·​Homozygous·​loss-​of-​function·​variants·​of·&lt;​i&gt;​KIDINS220&lt;​/​i&gt;​·​associated·​with·​a·​fetal·​lethal·​phenotype·​with·​ventriculomegaly·​and·​limb·​contractures·​have·​been·​reported.​</​Contents>
572990 ············​</​TextSection>572461 ············​</​TextSection>
572991 ··········​</​TextSectionList>572462 ··········​</​TextSectionList>
572992 ········​</​SummaryInformation>572463 ········​</​SummaryInformation>
575909 ··············​<TextSectionType·​id="16907">575380 ··············​<TextSectionType·​id="16907">
575910 ················​<Name·​lang="en">Definition<​/​Name>575381 ················​<Name·​lang="en">Definition<​/​Name>
575911 ··············​</​TextSectionType>575382 ··············​</​TextSectionType>
575912 ··············​<Contents>A·​rare·​ciliopathy·​with·​major·​skeletal·​involvement·​characterized·​by·​a·​hypoplastic·​thorax·​with·​short·​ribs·​and·​protuberant·​abdomen,​·​micromelia·​with·​particularly·​short·​tibiae·​with·​ovoid·​configuration,​·​pre-​·​and·​postaxial·​polydactyly,​·​brachydactyly,​·​hypoplasia·​or·​aplasia·​of·​nails,​·​and·​dysmorphic·​craniofacial·​features·​(such·​as·​prominent·​forehead,​·​low-​set·​and·​malformed·​ears,​·​short·​and·​flat·​nose,​·​lobulated·​tongue,​·​micrognathia,​·​and·​cleft·​lip/​palate)​.​·​Additional·​reported·​manifestations·​include·​urogenital,​·​gastrointestinal,​·​cardiovascular,​·​and·​cerebral·​malformations,​·​among·​others.​·​The·​condition·​is·​fetal·​in·​the·​neonatal·​period.​</​Contents>575383 ··············​<Contents>A·​rare·​ciliopathy·​with·​major·​skeletal·​involvement·​characterized·​by·​a·​hypoplastic·​thorax·​with·​short·​ribs·​and·​protuberant·​abdomen,​·​micromelia·​with·​particularly·​short·​tibiae·​with·​ovoid·​configuration,​·​pre-​·​and·​postaxial·​polydactyly,​·​brachydactyly,​·​hypoplasia·​or·​aplasia·​of·​nails,​·​and·​dysmorphic·​craniofacial·​features·​(such·​as·​prominent·​forehead,​·​low-​set·​and·​malformed·​ears,​·​short·​and·​flat·​nose,​·​lobulated·​tongue,​·​micrognathia,​·​and·​cleft·​lip/​palate)​.​·​Additional·​reported·​manifestations·​include·​urogenital,​·​gastrointestinal,​·​cardiovascular,​·​and·​cerebral·​malformations,​·​among·​others.​·​The·​condition·​is·​fatal·​in·​the·​neonatal·​period.​</​Contents>
575913 ············​</​TextSection>575384 ············​</​TextSection>
575914 ··········​</​TextSectionList>575385 ··········​</​TextSectionList>
575915 ········​</​SummaryInformation>575386 ········​</​SummaryInformation>
577837 ··············​<TextSectionType·​id="16907">577308 ··············​<TextSectionType·​id="16907">
577838 ················​<Name·​lang="en">Definition<​/​Name>577309 ················​<Name·​lang="en">Definition<​/​Name>
577839 ··············​</​TextSectionType>577310 ··············​</​TextSectionType>
577840 ··············​<Contents>Renal·cysts·and·diabetes·syndrome·​(RCAD)​·is·a·rare·form·of·maturity-​onset·​diabetes·​of·​the·young·(MODY;​·see·this·term)​·​characterized·​clinically·by·heterogeneous·cystic·renal·disease·and·early-​onset·familial·​non-​autoimmune·diabetes.​·Pancreatic·​atrophy,​·liver·dysfunction·and·genital·tract·anomalies·are·​also·features·of·the·syndrome.​</​Contents>577311 ··············​<Contents>A·form·of·autosomal·dominant·tubulointerstitial·kidney·disease·​(ADTKD)​·due·to·variants·in·or·whole·gene·​deletions·​of·&lt;​i&gt;​HNF1B&lt;​/​i&gt;​,​·which·is·​characterized·by·​chronic·tubulo-​interstitial·nephritis,​·that·manifests·with·nonsignificant·urinalysis·and·slowly·progressive·renal·failure.​·It·can·be·​associated·with·cystic·kidney·dysplasia,​·early·onset·diabetes·​and·​extrarenal·manifestations.​</​Contents>
577841 ············​</​TextSection>577312 ············​</​TextSection>
577842 ··········​</​TextSectionList>577313 ··········​</​TextSectionList>
577843 ········​</​SummaryInformation>577314 ········​</​SummaryInformation>
590774 ······​</​ExternalReferenceList​>590245 ······​</​ExternalReferenceList​>
590775 ······​<DisorderDisorderAsso​ciationList·​count="0">590246 ······​<DisorderDisorderAsso​ciationList·​count="0">
590776 ······​</​DisorderDisorderAssoc​iationList>590247 ······​</​DisorderDisorderAssoc​iationList>
590777 ······​<SummaryInformationLi​st·​count="1">590248 ······​<SummaryInformationLi​st·​count="0">
590778 ········<SummaryInformation·id="-​1"·lang="en">
590779 ··········<TextSectionList·count="0">
590780 ··········</​TextSectionList>
590781 ··········<TextAuto>
590782 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
590783 ··········</​TextAuto>
590784 ········</​SummaryInformation>
590785 ······​</​SummaryInformationLis​t>590249 ······​</​SummaryInformationLis​t>
590786 ····​</​Disorder>590250 ····​</​Disorder>
590787 ····​<Disorder·​id="12103">590251 ····​<Disorder·​id="12103">
592214 ······​</​ExternalReferenceList​>591678 ······​</​ExternalReferenceList​>
592215 ······​<DisorderDisorderAsso​ciationList·​count="0">591679 ······​<DisorderDisorderAsso​ciationList·​count="0">
592216 ······​</​DisorderDisorderAssoc​iationList>591680 ······​</​DisorderDisorderAssoc​iationList>
592217 ······​<SummaryInformationLi​st·​count="1">591681 ······​<SummaryInformationLi​st·​count="0">
592218 ········<SummaryInformation·id="-​1"·lang="en">
592219 ··········<TextSectionList·count="0">
592220 ··········</​TextSectionList>
592221 ··········<TextAuto>
592222 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
592223 ··········</​TextAuto>
592224 ········</​SummaryInformation>
592225 ······​</​SummaryInformationLis​t>591682 ······​</​SummaryInformationLis​t>
592226 ····​</​Disorder>591683 ····​</​Disorder>
592227 ····​<Disorder·​id="11422">591684 ····​<Disorder·​id="11422">
592396 ··············​<TextSectionType·​id="16907">591853 ··············​<TextSectionType·​id="16907">
592397 ················​<Name·​lang="en">Definition<​/​Name>591854 ················​<Name·​lang="en">Definition<​/​Name>
592398 ··············​</​TextSectionType>591855 ··············​</​TextSectionType>
592399 ··············​<Contents>Epidermolys​is·​bullosa·​simplex·with·mottled·pigmentation·(EBS-​MP)​·is·a·basal·subtype·of·epidermolysis·bullosa·simplex·(EBS,​·see·this·​term)​·characterized·by·generalized·​blistering·with·​mottled·or·reticulate·brown·pigmentation.​</​Contents>591856 ··············​<Contents>A·rare,​·inherited,​·epidermolysis·​bullosa·​simplex·characterized·by·neonatal·or·infantile·onset·of·generalized·blistering·with·mottled·or·reticulate·brown·pigmentation·developing·later.​·Blistering·is·often·accompanied·​by·mild·nail·dystrophy·and·focal·palmoplantar·keratoderma,​·and·rarely·by·milia·and·mostly·affects·the·limbs·and·trunk.​</​Contents>
592400 ············​</​TextSection>591857 ············​</​TextSection>
592401 ··········​</​TextSectionList>591858 ··········​</​TextSectionList>
592402 ········​</​SummaryInformation>591859 ········​</​SummaryInformation>
604307 ··············​<TextSectionType·​id="16907">603764 ··············​<TextSectionType·​id="16907">
604308 ················​<Name·​lang="en">Definition<​/​Name>603765 ················​<Name·​lang="en">Definition<​/​Name>
604309 ··············​</​TextSectionType>603766 ··············​</​TextSectionType>
604310 ··············​<Contents>A·​rare,​·​non-​rhizomelic,​·​chondrodysplasia·​punctata·​syndrome·​characterized,​·​radiologically,​·​by·​stippled·​calcifications·​and·​disproportionate,​·​short·​metacarpals·​and·​tibiae·​(with·​characteristic·​overshoot·​of·​the·​proximal·​fibula)​,​·​clincially·​manifesting·​with·​severe·​short·​stature,​·​bilateral·​shortening·​of·​upper·​and·​lower·​limbs,​·​flat·​midface·​and·​nose,​·​in·​the·​absence·​of·​cataracts·​and·​cutaneous·​anomalies.​·​Neonatal·​tachnypnea,​·​hydrocephalus·​and·​mild·​developmental·​delay·​have·​been·​seldomly·​associated.​·​Additional·​radiologic·​features·​include·​bowed·​long·​bones,​·​platyspondyly·​and/​or·​vertebral·​clefts.​</​Contents>603767 ··············​<Contents>A·​rare,​·​non-​rhizomelic,​·​chondrodysplasia·​punctata·​syndrome·​characterized,​·​radiologically,​·​by·​stippled·​calcifications·​and·​disproportionate,​·​short·​metacarpals·​and·​tibiae·​(with·​characteristic·​overshoot·​of·​the·​proximal·​fibula)​,​·​clinically·​manifesting·​with·​severe·​short·​stature,​·​bilateral·​shortening·​of·​upper·​and·​lower·​limbs,​·​flat·​midface·​and·​nose,​·​in·​the·​absence·​of·​cataracts·​and·​cutaneous·​anomalies.​·​Neonatal·​tachnypnea,​·​hydrocephalus·​and·​mild·​developmental·​delay·​have·​been·​seldomly·​associated.​·​Additional·​radiologic·​features·​include·​bowed·​long·​bones,​·​platyspondyly·​and/​or·​vertebral·​clefts.​</​Contents>
604311 ············​</​TextSection>603768 ············​</​TextSection>
604312 ··········​</​TextSectionList>603769 ··········​</​TextSectionList>
604313 ········​</​SummaryInformation>603770 ········​</​SummaryInformation>
609197 ··············​<TextSectionType·​id="16907">608654 ··············​<TextSectionType·​id="16907">
609198 ················​<Name·​lang="en">Definition<​/​Name>608655 ················​<Name·​lang="en">Definition<​/​Name>
609199 ··············​</​TextSectionType>608656 ··············​</​TextSectionType>
609200 ··············​<Contents>A·plasma·cell·​disorder·​characterized·​by·​the·​aggregation·​and·​deposition·​of·​insoluble·​amyloid·​fibrils·​derived·​from·​misfolding·​of·​monoclonal·​immunoglobulin·​light·​chains·usually·produced·by·a·plasma·cell·tumor.​·​It·​usually·​presents·​as·primary·​systemic·​amyloidosis·(PSA)​·with·multiple·​organ·involvement·​and·​less·​frequently·as·primary·​localized·​amyloidosis·(PLA)​·​restricted·​to·​a·​single·​organ.​</​Contents>608657 ··············​<Contents>A·clonal·B-​cell·​disorder·​characterized·​by·​the·​aggregation·​and·​deposition·​of·​insoluble·​amyloid·​fibrils·​derived·​from·​misfolding·​of·​monoclonal·​immunoglobulin·​light·​chains.​·​It·​usually·​presents·​as·​systemic·AL·​amyloidosis·with·involvement·of·one·or·more·parenchymal·organ(s)​·​and,​·​less·​frequently,​·​as·​localized·​amyloidosis·with·usually·nodular·deposits·​restricted·​to·​a·​single·​organ·and/​or·system.​</​Contents>
609201 ············​</​TextSection>608658 ············​</​TextSection>
609202 ··········​</​TextSectionList>608659 ··········​</​TextSectionList>
609203 ········​</​SummaryInformation>608660 ········​</​SummaryInformation>
609403 ··············​<TextSectionType·​id="16907">608860 ··············​<TextSectionType·​id="16907">
609404 ················​<Name·​lang="en">Definition<​/​Name>608861 ················​<Name·​lang="en">Definition<​/​Name>
609405 ··············​</​TextSectionType>608862 ··············​</​TextSectionType>
609406 ··············​<Contents>Secondary·amyloidosis·is·a·form·of·​amyloidosis·(see·this·term)​,​·​that·​complicates·​chronic·​inflammatory·​disorders·(mainly·rheumatoid·arthritis,​·see·this·term)​·​and·​is·​characterized·​by·​the·​aggregation·​and·​deposition·​of·​amyloid·​fibrils·​composed·​of·​serum·​amyloid·​A·​protein,​·​an·​acute·​phase·​reactant.​·Although·​spleen,​·suprarenal·gland,​·liver·​and·gut·are·frequent·sites·of·amyloid·deposition,​·​the·clinical·​picture·is·dominated·by·​renal·involvement.​</​Contents>608863 ··············​<Contents>A·rare·​amyloidosis·​that·​complicates·​chronic·​inflammatory·​disorders·​and·​is·​characterized·​by·​the·​aggregation·​and·​deposition·​of·​amyloid·​fibrils·​composed·​of·​serum·​amyloid·​A·​protein,​·​an·​acute·​phase·​reactant.​·The·kidney·is·involved·in·virtually·all·patients·​and·dominates·the·clinical·picture.​·Other·frequently·involved·sites·are·​the·​liver,​·the·spleen,​·suprarenal·gland,​·gut·and·less·frequently·the·heart.​</​Contents>
609407 ············​</​TextSection>608864 ············​</​TextSection>
609408 ··········​</​TextSectionList>608865 ··········​</​TextSectionList>
609409 ········​</​SummaryInformation>608866 ········​</​SummaryInformation>
612765 ······​</​ExternalReferenceList​>612222 ······​</​ExternalReferenceList​>
612766 ······​<DisorderDisorderAsso​ciationList·​count="0">612223 ······​<DisorderDisorderAsso​ciationList·​count="0">
612767 ······​</​DisorderDisorderAssoc​iationList>612224 ······​</​DisorderDisorderAssoc​iationList>
612768 ······​<SummaryInformationLi​st·​count="1">612225 ······​<SummaryInformationLi​st·​count="0">
612769 ········<SummaryInformation·id="-​1"·lang="en">
612770 ··········<TextSectionList·count="0">
612771 ··········</​TextSectionList>
612772 ··········<TextAuto>
612773 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
612774 ··········</​TextAuto>
612775 ········</​SummaryInformation>
612776 ······​</​SummaryInformationLis​t>612226 ······​</​SummaryInformationLis​t>
612777 ····​</​Disorder>612227 ····​</​Disorder>
612778 ····​<Disorder·​id="11752">612228 ····​<Disorder·​id="11752">
621285 ··············​<TextSectionType·​id="16907">620735 ··············​<TextSectionType·​id="16907">
621286 ················​<Name·​lang="en">Definition<​/​Name>620736 ················​<Name·​lang="en">Definition<​/​Name>
621287 ··············​</​TextSectionType>620737 ··············​</​TextSectionType>
621288 ··············​<Contents>A·​rare·​genetic·​disease·​characterized·​by·​intrauterine·​growth·​restriction,​·​metaphyseal·​dysplasia,​·​congenital·​adrenal·​hypoplasia,​·​and·​genital·​anomalies·​(such·​as·​cryptorchidism,​·​posterior·​hypospadias,​·​and·​micropenis)​.​·​Patients·​may·​present·​shortly·​after·​birth·​with·​severe·​adrenal·​insufficiency.​·​Additional·​manifestations·​include·​postnatal·​growth·​failure·​and·​delayed·​bone·​age,​·​mild·​developmental·​delay,​·​macrocephaly,​·​mild·​facial·​dysmorphism·​(with·​frontal·​bossing,​·​wide·​nasal·​bridge,​·​and·​small,​·​low-​set·​ears)​,​·​epiphyseal·​dysplasia,​·​and·​hypercalcemia/​hypercalcuria,​·​among·​others.​</​Contents>620738 ··············​<Contents>A·​rare·​genetic·​disease·​characterized·​by·​intrauterine·​growth·​restriction,​·​metaphyseal·​dysplasia,​·​congenital·​adrenal·​hypoplasia,​·​and·​genital·​anomalies·​(such·​as·​cryptorchidism,​·​posterior·​hypospadias,​·​and·​micropenis)​.​·​Patients·​may·​present·​shortly·​after·​birth·​with·​severe·​adrenal·​insufficiency.​·​Additional·​manifestations·​include·​postnatal·​growth·​failure·​and·​delayed·​bone·​age,​·​mild·​developmental·​delay,​·​macrocephaly,​·​mild·​facial·​dysmorphism·​(with·​frontal·​bossing,​·​wide·​nasal·​bridge,​·​and·​small,​·​low-​set·​ears)​,​·​epiphyseal·​dysplasia,​·​and·​hypercalcemia/​hypercalciuria,​·​among·​others.​</​Contents>
621289 ············​</​TextSection>620739 ············​</​TextSection>
621290 ··········​</​TextSectionList>620740 ··········​</​TextSectionList>
621291 ········​</​SummaryInformation>620741 ········​</​SummaryInformation>
622079 ······​</​DisorderFlagList>621529 ······​</​DisorderFlagList>
622080 ······​<SynonymList·​count="0">621530 ······​<SynonymList·​count="0">
622081 ······​</​SynonymList>621531 ······​</​SynonymList>
622082 ······​<DisorderType·​id="21394">621532 ······​<DisorderType·​id="21415">
622083 ········​<Name·​lang="en">Disease</​Name>621533 ········​<Name·​lang="en">Morphologic​al·anomaly</​Name>
622084 ······​</​DisorderType>621534 ······​</​DisorderType>
622085 ······​<DisorderGroup·​id="36547">621535 ······​<DisorderGroup·​id="36547">
622086 ········​<Name·​lang="en">Disorder</​Name>621536 ········​<Name·​lang="en">Disorder</​Name>
623796 ········​</​SummaryInformation>623246 ········​</​SummaryInformation>
623797 ······​</​SummaryInformationLis​t>623247 ······​</​SummaryInformationLis​t>
623798 ····​</​Disorder>623248 ····​</​Disorder>
623249 ····​<Disorder·​id="30684">
623250 ······​<OrphaCode>610573</​OrphaCode>
623251 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=610573</​ExpertLink>
623252 ······​<Name·​lang="en">CLCN6-​related·​childhood·​onset·​progressive·​neurodegeneration-​peripheral·​neuropathy-​syndrome</​Name>
623253 ······​<DisorderFlagList·​count="1">
623254 ········​<DisorderFlag·​id="475">
623255 ··········​<Value>1</​Value>
623256 ··········​<Label></​Label>
623257 ········​</​DisorderFlag>
623258 ······​</​DisorderFlagList>
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623260 ······​</​SynonymList>
623261 ······​<DisorderType·​id="21394">
623262 ········​<Name·​lang="en">Disease</​Name>
623263 ······​</​DisorderType>
623264 ······​<DisorderGroup·​id="36547">
623265 ········​<Name·​lang="en">Disorder</​Name>
623266 ······​</​DisorderGroup>
623267 ······​<ExternalReferenceLis​t·​count="1">
623268 ········​<ExternalReference·​id="200356">
623269 ··········​<Source>OMIM</​Source>
623270 ··········​<Reference>619173</​Reference>
623271 ··········​<DisorderMappingRelat​ion·​id="21527">
623272 ············​<Name·​lang="en">E·​(Exact·​mapping:​·​the·​two·​concepts·​are·​equivalent)​</​Name>
623273 ··········​</​DisorderMappingRelati​on>
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623275 ··········​<DisorderMappingValid​ationStatus·​id="21611">
623276 ············​<Name·​lang="en">Validated</​Name>
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623284 ····​</​Disorder>
623799 ····​<Disorder·​id="13086">623285 ····​<Disorder·​id="13086">
623800 ······​<OrphaCode>98068</​OrphaCode>623286 ······​<OrphaCode>98068</​OrphaCode>
623801 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98068</​ExpertLink>623287 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98068</​ExpertLink>
623988 ········​</​SummaryInformation>623474 ········​</​SummaryInformation>
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623990 ····​</​Disorder>623476 ····​</​Disorder>
623477 ····​<Disorder·​id="30683">
623478 ······​<OrphaCode>610569</​OrphaCode>
623479 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=610569</​ExpertLink>
623480 ······​<Name·​lang="en">KIAA1109-​related·​early·​lethal-​congenital·​brain·​mlaformations-​arthrogryposis-​syndrome</​Name>
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623485 ········​</​DisorderFlag>
623486 ······​</​DisorderFlagList>
623487 ······​<SynonymList·​count="1">
623488 ········​<Synonym·​lang="en">ALKURAYA-​KUCINSKAS·​SYNDROME</​Synonym>
623489 ······​</​SynonymList>
623490 ······​<DisorderType·​id="21394">
623491 ········​<Name·​lang="en">Disease</​Name>
623492 ······​</​DisorderType>
623493 ······​<DisorderGroup·​id="36547">
623494 ········​<Name·​lang="en">Disorder</​Name>
623495 ······​</​DisorderGroup>
623496 ······​<ExternalReferenceLis​t·​count="1">
623497 ········​<ExternalReference·​id="200353">
623498 ··········​<Source>OMIM</​Source>
623499 ··········​<Reference>617822</​Reference>
623500 ··········​<DisorderMappingRelat​ion·​id="21527">
623501 ············​<Name·​lang="en">E·​(Exact·​mapping:​·​the·​two·​concepts·​are·​equivalent)​</​Name>
623502 ··········​</​DisorderMappingRelati​on>
623503 ··········​<DisorderMappingICDRe​lation/​>
623504 ··········​<DisorderMappingValid​ationStatus·​id="21611">
623505 ············​<Name·​lang="en">Validated</​Name>
623506 ··········​</​DisorderMappingValida​tionStatus>
623507 ········​</​ExternalReference>
623508 ······​</​ExternalReferenceList​>
623509 ······​<DisorderDisorderAsso​ciationList·​count="0">
623510 ······​</​DisorderDisorderAssoc​iationList>
623511 ······​<SummaryInformationLi​st·​count="0">
623512 ······​</​SummaryInformationLis​t>
623513 ····​</​Disorder>
623991 ····​<Disorder·​id="13082">623514 ····​<Disorder·​id="13082">
623992 ······​<OrphaCode>98064</​OrphaCode>623515 ······​<OrphaCode>98064</​OrphaCode>
623993 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98064</​ExpertLink>623516 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98064</​ExpertLink>
625827 ········​</​SummaryInformation>625350 ········​</​SummaryInformation>
625828 ······​</​SummaryInformationLis​t>625351 ······​</​SummaryInformationLis​t>
625829 ····​</​Disorder>625352 ····​</​Disorder>
625353 ····​<Disorder·​id="30477">
625354 ······​<OrphaCode>600691</​OrphaCode>
625355 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=600691</​ExpertLink>
625356 ······​<Name·​lang="en">Combined·​deficiency·​of·​factor·​VII·​and·​factor·​X</​Name>
625357 ······​<DisorderFlagList·​count="1">
625358 ········​<DisorderFlag·​id="475">
625359 ··········​<Value>1</​Value>
625360 ··········​<Label></​Label>
625361 ········​</​DisorderFlag>
625362 ······​</​DisorderFlagList>
625363 ······​<SynonymList·​count="0">
625364 ······​</​SynonymList>
625365 ······​<DisorderType·​id="21394">
625366 ········​<Name·​lang="en">Disease</​Name>
625367 ······​</​DisorderType>
625368 ······​<DisorderGroup·​id="36547">
625369 ········​<Name·​lang="en">Disorder</​Name>
625370 ······​</​DisorderGroup>
625371 ······​<ExternalReferenceLis​t·​count="0">
625372 ······​</​ExternalReferenceList​>
625373 ······​<DisorderDisorderAsso​ciationList·​count="0">
625374 ······​</​DisorderDisorderAssoc​iationList>
625375 ······​<SummaryInformationLi​st·​count="0">
625376 ······​</​SummaryInformationLis​t>
625377 ····​</​Disorder>
625830 ····​<Disorder·​id="30478">625378 ····​<Disorder·​id="30478">
625831 ······​<OrphaCode>600731</​OrphaCode>625379 ······​<OrphaCode>600731</​OrphaCode>
625832 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=600731</​ExpertLink>625380 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=600731</​ExpertLink>
629048 ··············​<TextSectionType·​id="16907">628596 ··············​<TextSectionType·​id="16907">
629049 ················​<Name·​lang="en">Definition<​/​Name>628597 ················​<Name·​lang="en">Definition<​/​Name>
629050 ··············​</​TextSectionType>628598 ··············​</​TextSectionType>
629051 ··············​<Contents>A·​rare,​·life-​threatening·​mutliple·​congenital·​anomalies·​syndrome·​characterized·​by·​intrauterine·​growth·​restriction,​·​postnatal·​failure·​to·​thrive·and·​facial·​dysmorphism·(microcephaly·or·trigonocephaly,​·prominent·glabellar·nevus·flammeus·(simplex)​·fading·with·age,​·hypotonic·​facies,​·low·frontal·and·temporal·hairline,​·hirsutism,​·synophrys,​·prominent·or·proptotic·eyes,​·hypertelorism,​·upslanting·palpebral·fissures,​·depressed·​and·wide·nasal·bridge,​·anteverted·nares,​·full·cheeks,​·low-​set·and·posteriorly·angulated·ears,​·cleft·lip·and/​or·palate,​·high·arched·palate,​·micrognathia·and/​or·retrognathia)​.​·A·specific·​posture·(BOS·posture)​·is·also·reported,​·characterized·by·external·​rotation·and/​or·adduction·​of·​the·​shoulders,​·​flexion·at·​the·​elbows·and·wrists,​·​ulnar·​deviation·​of·the·​wrists·​and/​or·the·​metacarpophalangeal·​joints.​·Additional·features·mainly·include·severe·feeding·difficulties,​·chronic·emesis,​·recurrent·infections,​·hypertrichosis,​·seizures,​·truncal·hypotonia·and·hypertonic·extremities,​·as·well·as·cerebral,​·ocular,​·cardiac,​·and·other·skeletal·anomalies,​·central·obesity,​·severe·intellectual·disability,​·sleep·disturbance,​·urinary·retention,​·and·an·increased·risk·for·renal·stones·and·Wilms·tumor.​</​Contents>628599 ··············​<Contents>A·​rare·​multiple·​congenital·​anomalies·​syndrome·​characterized·​by·​intrauterine·​growth·​retardation·(IUGR)​,​·​postnatal·​failure·​to·​thrive,​·severe·​feeding·​difficulties,​·​microcephaly/​trigonocephaly,​·​facial·​dysmorphism,​·a·​recognizable·upper·​limb·posture·​and·​severe·developmental·​delay.​·The·upper·limb·​posture·consists·​of·​internal·​rotation·​of·​the·​shoulders,​·​flexion·of·​the·​elbows,​·​ulnar·​deviation·​of·​wrists·​and/​or·​metacarpophalangeal·​joints.​</​Contents>
629052 ············​</​TextSection>628600 ············​</​TextSection>
629053 ··········​</​TextSectionList>628601 ··········​</​TextSectionList>
629054 ········​</​SummaryInformation>628602 ········​</​SummaryInformation>
634101 ········​</​SummaryInformation>633649 ········​</​SummaryInformation>
634102 ······​</​SummaryInformationLis​t>633650 ······​</​SummaryInformationLis​t>
634103 ····​</​Disorder>633651 ····​</​Disorder>
633652 ····​<Disorder·​id="30241">
633653 ······​<OrphaCode>600194</​OrphaCode>
633654 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=600194</​ExpertLink>
633655 ······​<Name·​lang="en">Factor·​V·​Atlanta·​bleeding·​disorder</​Name>
633656 ······​<DisorderFlagList·​count="1">
633657 ········​<DisorderFlag·​id="475">
633658 ··········​<Value>1</​Value>
633659 ··········​<Label></​Label>
633660 ········​</​DisorderFlag>
633661 ······​</​DisorderFlagList>
633662 ······​<SynonymList·​count="0">
633663 ······​</​SynonymList>
633664 ······​<DisorderType·​id="21443">
633665 ········​<Name·​lang="en">Etiological​·​subtype</​Name>
633666 ······​</​DisorderType>
633667 ······​<DisorderGroup·​id="36554">
633668 ········​<Name·​lang="en">Subtype·​of·​disorder</​Name>
633669 ······​</​DisorderGroup>
633670 ······​<ExternalReferenceLis​t·​count="0">
633671 ······​</​ExternalReferenceList​>
633672 ······​<DisorderDisorderAsso​ciationList·​count="0">
633673 ······​</​DisorderDisorderAssoc​iationList>
633674 ······​<SummaryInformationLi​st·​count="0">
633675 ······​</​SummaryInformationLis​t>
633676 ····​</​Disorder>
634104 ····​<Disorder·​id="13028">633677 ····​<Disorder·​id="13028">
634105 ······​<OrphaCode>98010</​OrphaCode>633678 ······​<OrphaCode>98010</​OrphaCode>
634106 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98010</​ExpertLink>633679 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=98010</​ExpertLink>
636412 ······​</​ExternalReferenceList​>635985 ······​</​ExternalReferenceList​>
636413 ······​<DisorderDisorderAsso​ciationList·​count="0">635986 ······​<DisorderDisorderAsso​ciationList·​count="0">
636414 ······​</​DisorderDisorderAssoc​iationList>635987 ······​</​DisorderDisorderAssoc​iationList>
636415 ······​<SummaryInformationLi​st·​count="1">635988 ······​<SummaryInformationLi​st·​count="0">
636416 ········<SummaryInformation·id="-​1"·lang="en">
636417 ··········<TextSectionList·count="0">
636418 ··········</​TextSectionList>
636419 ··········<TextAuto>
636420 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
636421 ··········</​TextAuto>
636422 ········</​SummaryInformation>
636423 ······​</​SummaryInformationLis​t>635989 ······​</​SummaryInformationLis​t>
636424 ····​</​Disorder>635990 ····​</​Disorder>
636425 ····​<Disorder·​id="12665">635991 ····​<Disorder·​id="12665">
636457 ······​</​ExternalReferenceList​>636023 ······​</​ExternalReferenceList​>
636458 ······​<DisorderDisorderAsso​ciationList·​count="0">636024 ······​<DisorderDisorderAsso​ciationList·​count="0">
636459 ······​</​DisorderDisorderAssoc​iationList>636025 ······​</​DisorderDisorderAssoc​iationList>
636460 ······​<SummaryInformationLi​st·​count="1">636026 ······​<SummaryInformationLi​st·​count="0">
636461 ········<SummaryInformation·id="-​1"·lang="en">
636462 ··········<TextSectionList·count="0">
636463 ··········</​TextSectionList>
636464 ··········<TextAuto>
636465 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
636466 ··········</​TextAuto>
636467 ········</​SummaryInformation>
636468 ······​</​SummaryInformationLis​t>636027 ······​</​SummaryInformationLis​t>
636469 ····​</​Disorder>636028 ····​</​Disorder>
636470 ····​<Disorder·​id="12647">636029 ····​<Disorder·​id="12647">
640183 ··············​<TextSectionType·​id="16907">639742 ··············​<TextSectionType·​id="16907">
640184 ················​<Name·​lang="en">Definition<​/​Name>639743 ················​<Name·​lang="en">Definition<​/​Name>
640185 ··············​</​TextSectionType>639744 ··············​</​TextSectionType>
640186 ··············​<Contents>A·​rare,​·​acquired·​motor·​neuron·​disease·​characterized·​by·​a·​slowly·​progressive,​·​unilateral,​·​ascending·​or·​descending·​hemplegia,​·​associated·​to·​unilateral·​or·​asymmetrical·​pyramidal·​signs·​and·​no·​sensory·​loss.​·​It·​is·​a·​diagnosis·​of·​exclusion·​and·​contorversy·​exists·​regarding·​whether·​the·​presence·​of·​bulbar·​symptoms,​·​sphincter·​disturbances,​·​fasciculations·​or·​cognitive·​manifestations·​characterize·​the·​disease.​</​Contents>639745 ··············​<Contents>A·​rare,​·​acquired·​motor·​neuron·​disease·​characterized·​by·​a·​slowly·​progressive,​·​unilateral,​·​ascending·​or·​descending·​hemiplegia,​·​associated·​to·​unilateral·​or·​asymmetrical·​pyramidal·​signs·​and·​no·​sensory·​loss.​·​It·​is·​a·​diagnosis·​of·​exclusion·​and·​controversy·​exists·​regarding·​whether·​the·​presence·​of·​bulbar·​symptoms,​·​sphincter·​disturbances,​·​fasciculations·​or·​cognitive·​manifestations·​characterize·​the·​disease.​</​Contents>
640187 ············​</​TextSection>639746 ············​</​TextSection>
640188 ··········​</​TextSectionList>639747 ··········​</​TextSectionList>
640189 ········​</​SummaryInformation>639748 ········​</​SummaryInformation>
649478 ········​</​SummaryInformation>649037 ········​</​SummaryInformation>
649479 ······​</​SummaryInformationLis​t>649038 ······​</​SummaryInformationLis​t>
649480 ····​</​Disorder>649039 ····​</​Disorder>
649040 ····​<Disorder·​id="29927">
649041 ······​<OrphaCode>599480</​OrphaCode>
649042 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599480</​ExpertLink>
649043 ······​<Name·​lang="en">Acquired·​hemophilia·​A</​Name>
649044 ······​<DisorderFlagList·​count="1">
649045 ········​<DisorderFlag·​id="475">
649046 ··········​<Value>1</​Value>
649047 ··········​<Label></​Label>
649048 ········​</​DisorderFlag>
649049 ······​</​DisorderFlagList>
649050 ······​<SynonymList·​count="1">
649051 ········​<Synonym·​lang="en">AHA</​Synonym>
649052 ······​</​SynonymList>
649053 ······​<DisorderType·​id="21394">
649054 ········​<Name·​lang="en">Disease</​Name>
649055 ······​</​DisorderType>
649056 ······​<DisorderGroup·​id="36547">
649057 ········​<Name·​lang="en">Disorder</​Name>
649058 ······​</​DisorderGroup>
649059 ······​<ExternalReferenceLis​t·​count="0">
649060 ······​</​ExternalReferenceList​>
649061 ······​<DisorderDisorderAsso​ciationList·​count="0">
649062 ······​</​DisorderDisorderAssoc​iationList>
649063 ······​<SummaryInformationLi​st·​count="0">
649064 ······​</​SummaryInformationLis​t>
649065 ····​</​Disorder>
649066 ····​<Disorder·​id="29928">
649067 ······​<OrphaCode>599485</​OrphaCode>
649068 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599485</​ExpertLink>
649069 ······​<Name·​lang="en">Acquired·​hemophilia·​B</​Name>
649070 ······​<DisorderFlagList·​count="1">
649071 ········​<DisorderFlag·​id="475">
649072 ··········​<Value>1</​Value>
649073 ··········​<Label></​Label>
649074 ········​</​DisorderFlag>
649075 ······​</​DisorderFlagList>
649076 ······​<SynonymList·​count="1">
649077 ········​<Synonym·​lang="en">AHB</​Synonym>
649078 ······​</​SynonymList>
649079 ······​<DisorderType·​id="21394">
649080 ········​<Name·​lang="en">Disease</​Name>
649081 ······​</​DisorderType>
649082 ······​<DisorderGroup·​id="36547">
649083 ········​<Name·​lang="en">Disorder</​Name>
649084 ······​</​DisorderGroup>
649085 ······​<ExternalReferenceLis​t·​count="0">
649086 ······​</​ExternalReferenceList​>
649087 ······​<DisorderDisorderAsso​ciationList·​count="0">
649088 ······​</​DisorderDisorderAssoc​iationList>
649089 ······​<SummaryInformationLi​st·​count="0">
649090 ······​</​SummaryInformationLis​t>
649091 ····​</​Disorder>
649481 ····​<Disorder·​id="12328">649092 ····​<Disorder·​id="12328">
649482 ······​<OrphaCode>93406</​OrphaCode>649093 ······​<OrphaCode>93406</​OrphaCode>
649483 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93406</​ExpertLink>649094 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93406</​ExpertLink>
649585 ········​</​SummaryInformation>649196 ········​</​SummaryInformation>
649586 ······​</​SummaryInformationLis​t>649197 ······​</​SummaryInformationLis​t>
649587 ····​</​Disorder>649198 ····​</​Disorder>
649199 ····​<Disorder·​id="29929">
649200 ······​<OrphaCode>599490</​OrphaCode>
649201 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599490</​ExpertLink>
649202 ······​<Name·​lang="en">Acquired·​factor·​V·​deficiency</​Name>
649203 ······​<DisorderFlagList·​count="1">
649204 ········​<DisorderFlag·​id="475">
649205 ··········​<Value>1</​Value>
649206 ··········​<Label></​Label>
649207 ········​</​DisorderFlag>
649208 ······​</​DisorderFlagList>
649209 ······​<SynonymList·​count="0">
649210 ······​</​SynonymList>
649211 ······​<DisorderType·​id="21394">
649212 ········​<Name·​lang="en">Disease</​Name>
649213 ······​</​DisorderType>
649214 ······​<DisorderGroup·​id="36547">
649215 ········​<Name·​lang="en">Disorder</​Name>
649216 ······​</​DisorderGroup>
649217 ······​<ExternalReferenceLis​t·​count="0">
649218 ······​</​ExternalReferenceList​>
649219 ······​<DisorderDisorderAsso​ciationList·​count="0">
649220 ······​</​DisorderDisorderAssoc​iationList>
649221 ······​<SummaryInformationLi​st·​count="0">
649222 ······​</​SummaryInformationLis​t>
649223 ····​</​Disorder>
649588 ····​<Disorder·​id="12331">649224 ····​<Disorder·​id="12331">
649589 ······​<OrphaCode>93409</​OrphaCode>649225 ······​<OrphaCode>93409</​OrphaCode>
649590 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93409</​ExpertLink>649226 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93409</​ExpertLink>
649669 ······​<SummaryInformationLi​st·​count="0">649305 ······​<SummaryInformationLi​st·​count="0">
649670 ······​</​SummaryInformationLis​t>649306 ······​</​SummaryInformationLis​t>
649671 ····​</​Disorder>649307 ····​</​Disorder>
649308 ····​<Disorder·​id="29931">
649309 ······​<OrphaCode>599501</​OrphaCode>
649310 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599501</​ExpertLink>
649311 ······​<Name·​lang="en">Acquired·​factor·​X·​deficiency</​Name>
649312 ······​<DisorderFlagList·​count="1">
649313 ········​<DisorderFlag·​id="475">
649314 ··········​<Value>1</​Value>
649315 ··········​<Label></​Label>
649316 ········​</​DisorderFlag>
649317 ······​</​DisorderFlagList>
649318 ······​<SynonymList·​count="1">
649319 ········​<Synonym·​lang="en">aFX</​Synonym>
649320 ······​</​SynonymList>
649321 ······​<DisorderType·​id="21394">
649322 ········​<Name·​lang="en">Disease</​Name>
649323 ······​</​DisorderType>
649324 ······​<DisorderGroup·​id="36547">
649325 ········​<Name·​lang="en">Disorder</​Name>
649326 ······​</​DisorderGroup>
649327 ······​<ExternalReferenceLis​t·​count="0">
649328 ······​</​ExternalReferenceList​>
649329 ······​<DisorderDisorderAsso​ciationList·​count="0">
649330 ······​</​DisorderDisorderAssoc​iationList>
649331 ······​<SummaryInformationLi​st·​count="0">
649332 ······​</​SummaryInformationLis​t>
649333 ····​</​Disorder>
649672 ····​<Disorder·​id="12333">649334 ····​<Disorder·​id="12333">
649673 ······​<OrphaCode>93419</​OrphaCode>649335 ······​<OrphaCode>93419</​OrphaCode>
649674 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93419</​ExpertLink>649336 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93419</​ExpertLink>
649705 ········​</​SummaryInformation>649367 ········​</​SummaryInformation>
649706 ······​</​SummaryInformationLis​t>649368 ······​</​SummaryInformationLis​t>
649707 ····​</​Disorder>649369 ····​</​Disorder>
649370 ····​<Disorder·​id="29932">
649371 ······​<OrphaCode>599507</​OrphaCode>
649372 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599507</​ExpertLink>
649373 ······​<Name·​lang="en">Acquired·​factor·​XI·​deficiency</​Name>
649374 ······​<DisorderFlagList·​count="1">
649375 ········​<DisorderFlag·​id="475">
649376 ··········​<Value>1</​Value>
649377 ··········​<Label></​Label>
649378 ········​</​DisorderFlag>
649379 ······​</​DisorderFlagList>
649380 ······​<SynonymList·​count="1">
649381 ········​<Synonym·​lang="en">aFXI</​Synonym>
649382 ······​</​SynonymList>
649383 ······​<DisorderType·​id="21394">
649384 ········​<Name·​lang="en">Disease</​Name>
649385 ······​</​DisorderType>
649386 ······​<DisorderGroup·​id="36547">
649387 ········​<Name·​lang="en">Disorder</​Name>
649388 ······​</​DisorderGroup>
649389 ······​<ExternalReferenceLis​t·​count="0">
649390 ······​</​ExternalReferenceList​>
649391 ······​<DisorderDisorderAsso​ciationList·​count="0">
649392 ······​</​DisorderDisorderAssoc​iationList>
649393 ······​<SummaryInformationLi​st·​count="0">
649394 ······​</​SummaryInformationLis​t>
649395 ····​</​Disorder>
649396 ····​<Disorder·​id="29933">
649397 ······​<OrphaCode>599513</​OrphaCode>
649398 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599513</​ExpertLink>
649399 ······​<Name·​lang="en">Acquired·​factor·​XIII·​deficiency</​Name>
649400 ······​<DisorderFlagList·​count="1">
649401 ········​<DisorderFlag·​id="475">
649402 ··········​<Value>1</​Value>
649403 ··········​<Label></​Label>
649404 ········​</​DisorderFlag>
649405 ······​</​DisorderFlagList>
649406 ······​<SynonymList·​count="1">
649407 ········​<Synonym·​lang="en">aFXIII</​Synonym>
649408 ······​</​SynonymList>
649409 ······​<DisorderType·​id="21394">
649410 ········​<Name·​lang="en">Disease</​Name>
649411 ······​</​DisorderType>
649412 ······​<DisorderGroup·​id="36547">
649413 ········​<Name·​lang="en">Disorder</​Name>
649414 ······​</​DisorderGroup>
649415 ······​<ExternalReferenceLis​t·​count="0">
649416 ······​</​ExternalReferenceList​>
649417 ······​<DisorderDisorderAsso​ciationList·​count="0">
649418 ······​</​DisorderDisorderAssoc​iationList>
649419 ······​<SummaryInformationLi​st·​count="0">
649420 ······​</​SummaryInformationLis​t>
649421 ····​</​Disorder>
649708 ····​<Disorder·​id="12335">649422 ····​<Disorder·​id="12335">
649709 ······​<OrphaCode>93421</​OrphaCode>649423 ······​<OrphaCode>93421</​OrphaCode>
649710 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93421</​ExpertLink>649424 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93421</​ExpertLink>
649769 ········​</​SummaryInformation>649483 ········​</​SummaryInformation>
649770 ······​</​SummaryInformationLis​t>649484 ······​</​SummaryInformationLis​t>
649771 ····​</​Disorder>649485 ····​</​Disorder>
649486 ····​<Disorder·​id="29935">
649487 ······​<OrphaCode>599579</​OrphaCode>
649488 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=599579</​ExpertLink>
649489 ······​<Name·​lang="en">Factor·​V·​Amsterdam·​bleeding·​disorder</​Name>
649490 ······​<DisorderFlagList·​count="1">
649491 ········​<DisorderFlag·​id="475">
649492 ··········​<Value>1</​Value>
649493 ··········​<Label></​Label>
649494 ········​</​DisorderFlag>
649495 ······​</​DisorderFlagList>
649496 ······​<SynonymList·​count="0">
649497 ······​</​SynonymList>
649498 ······​<DisorderType·​id="21443">
649499 ········​<Name·​lang="en">Etiological​·​subtype</​Name>
649500 ······​</​DisorderType>
649501 ······​<DisorderGroup·​id="36554">
649502 ········​<Name·​lang="en">Subtype·​of·​disorder</​Name>
649503 ······​</​DisorderGroup>
649504 ······​<ExternalReferenceLis​t·​count="0">
649505 ······​</​ExternalReferenceList​>
649506 ······​<DisorderDisorderAsso​ciationList·​count="0">
649507 ······​</​DisorderDisorderAssoc​iationList>
649508 ······​<SummaryInformationLi​st·​count="0">
649509 ······​</​SummaryInformationLis​t>
649510 ····​</​Disorder>
649772 ····​<Disorder·​id="12336">649511 ····​<Disorder·​id="12336">
649773 ······​<OrphaCode>93422</​OrphaCode>649512 ······​<OrphaCode>93422</​OrphaCode>
649774 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93422</​ExpertLink>649513 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=93422</​ExpertLink>
655625 ··········​<Label></​Label>655364 ··········​<Label></​Label>
655626 ········​</​DisorderFlag>655365 ········​</​DisorderFlag>
655627 ······​</​DisorderFlagList>655366 ······​</​DisorderFlagList>
655628 ······​<SynonymList·​count="1">655367 ······​<SynonymList·​count="0">
655629 ········<Synonym·lang="en">Nephrolithi​asis·type·1</​Synonym>
655630 ······​</​SynonymList>655368 ······​</​SynonymList>
655631 ······​<DisorderType·​id="21450">655369 ······​<DisorderType·​id="21450">
655632 ········​<Name·​lang="en">Clinical·​subtype</​Name>655370 ········​<Name·​lang="en">Clinical·​subtype</​Name>
655772 ··········​<Label></​Label>655510 ··········​<Label></​Label>
655773 ········​</​DisorderFlag>655511 ········​</​DisorderFlag>
655774 ······​</​DisorderFlagList>655512 ······​</​DisorderFlagList>
655775 ······​<SynonymList·​count="1">655513 ······​<SynonymList·​count="0">
655776 ········<Synonym·lang="en">Nephrolithi​asis·type·2</​Synonym>
655777 ······​</​SynonymList>655514 ······​</​SynonymList>
655778 ······​<DisorderType·​id="21450">655515 ······​<DisorderType·​id="21450">
655779 ········​<Name·​lang="en">Clinical·​subtype</​Name>655516 ········​<Name·​lang="en">Clinical·​subtype</​Name>
658370 ··············​<TextSectionType·​id="16907">658107 ··············​<TextSectionType·​id="16907">
658371 ················​<Name·​lang="en">Definition<​/​Name>658108 ················​<Name·​lang="en">Definition<​/​Name>
658372 ··············​</​TextSectionType>658109 ··············​</​TextSectionType>
658373 ··············​<Contents>Classic·​Bartter·​syndrome·is·a·type·of·Bartter·syndrome·(see·​this·​term)​,​·characterized·by·a·milder·clinical·picture·than·the·antenatal/​infantile·subtype,​·and·presenting·​with·​failure·​to·​thrive,​·​hypokalemic·​alkalosis,​·​increased·​levels·​of·​plasma·​renin·​and·​aldosterone,​·low·blood·pressure·and·vascular·resistance·to·angiotensin·II.​</​Contents>658110 ··············​<Contents>A·form·of·​Bartter·​syndrome·characterized·by·a·later·age·at·onset·​than·​the·other·types·of·Bartter·syndrome,​·typically·presenting·beyond·the·first·year·of·life·​with·​failure·​to·​thrive,​·​hypokalemic·and·hypochloremic·metabolic·​alkalosis,​·​increased·​levels·​of·​plasma·​renin·​and·​aldosterone·and·​low·to·​normal·blood·pressure.​</​Contents>
658374 ············​</​TextSection>658111 ············​</​TextSection>
658375 ··········​</​TextSectionList>658112 ··········​</​TextSectionList>
658376 ········​</​SummaryInformation>658113 ········​</​SummaryInformation>
660244 ··············​<TextSectionType·​id="16907">659981 ··············​<TextSectionType·​id="16907">
660245 ················​<Name·​lang="en">Definition<​/​Name>659982 ················​<Name·​lang="en">Definition<​/​Name>
660246 ··············​</​TextSectionType>659983 ··············​</​TextSectionType>
660247 ··············​<Contents>A·​rare·​vascular·​anomaly·​characterized·​by·​congenital·​narrowing·​of·​the·​inferior·​vena·​cava·​mostly·​at·​the·​diaphragmatic·​level·​or·​hepatic·​segment,​·​with·​or·​without·​web·​formation.​·​Patients·​may·​present·​with·​deep·​vein·​thrombosis·​below·​the·​obstructed·​segment,​·lower·extremity·​swellings,​·​pain,​·​and·​varices,​·​abdominal·​pain/​varices,​·​or·​hematochezia.​·​Presence·​of·​collateral·​veins·​between·​upper·​and·​lower·​segments·​of·​the·​stenosis,​·​as·​well·​as·​venous·​aneurysms·​are·​typical·​associated·​findings.​</​Contents>659984 ··············​<Contents>A·​rare·​vascular·​anomaly·​characterized·​by·​congenital·​narrowing·​of·​the·​inferior·​vena·​cava·​mostly·​at·​the·​diaphragmatic·​level·​or·​hepatic·​segment,​·​with·​or·​without·​web·​formation.​·​Patients·​may·​present·​with·​deep·​vein·​thrombosis·​below·​the·​obstructed·​segment·as·well·as·​swelling,​·​pain,​·​and·​varices·of·the·lower·extremities,​·​abdominal·​pain/​varices,​·​or·​hematochezia.​·​Presence·​of·​collateral·​veins·​between·​upper·​and·​lower·​segments·​of·​the·​stenosis,​·​as·​well·​as·​venous·​aneurysms·​are·​typical·​associated·​findings.​</​Contents>
660248 ············​</​TextSection>659985 ············​</​TextSection>
660249 ··········​</​TextSectionList>659986 ··········​</​TextSectionList>
660250 ········​</​SummaryInformation>659987 ········​</​SummaryInformation>
683802 ······​</​ExternalReferenceList​>683539 ······​</​ExternalReferenceList​>
683803 ······​<DisorderDisorderAsso​ciationList·​count="0">683540 ······​<DisorderDisorderAsso​ciationList·​count="0">
683804 ······​</​DisorderDisorderAssoc​iationList>683541 ······​</​DisorderDisorderAssoc​iationList>
683805 ······​<SummaryInformationLi​st·​count="1">683542 ······​<SummaryInformationLi​st·​count="0">
683806 ········<SummaryInformation·id="-​1"·lang="en">
683807 ··········<TextSectionList·count="0">
683808 ··········</​TextSectionList>
683809 ··········<TextAuto>
683810 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
683811 ··········</​TextAuto>
683812 ········</​SummaryInformation>
683813 ······​</​SummaryInformationLis​t>683543 ······​</​SummaryInformationLis​t>
683814 ····​</​Disorder>683544 ····​</​Disorder>
683815 ····​<Disorder·​id="13694">683545 ····​<Disorder·​id="13694">
684312 ······​</​ExternalReferenceList​>684042 ······​</​ExternalReferenceList​>
684313 ······​<DisorderDisorderAsso​ciationList·​count="0">684043 ······​<DisorderDisorderAsso​ciationList·​count="0">
684314 ······​</​DisorderDisorderAssoc​iationList>684044 ······​</​DisorderDisorderAssoc​iationList>
684315 ······​<SummaryInformationLi​st·​count="1">684045 ······​<SummaryInformationLi​st·​count="0">
684316 ········<SummaryInformation·id="-​1"·lang="en">
684317 ··········<TextSectionList·count="0">
684318 ··········</​TextSectionList>
684319 ··········<TextAuto>
684320 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
684321 ··········</​TextAuto>
684322 ········</​SummaryInformation>
684323 ······​</​SummaryInformationLis​t>684046 ······​</​SummaryInformationLis​t>
684324 ····​</​Disorder>684047 ····​</​Disorder>
684325 ····​<Disorder·​id="13686">684048 ····​<Disorder·​id="13686">
684709 ······​</​ExternalReferenceList​>684432 ······​</​ExternalReferenceList​>
684710 ······​<DisorderDisorderAsso​ciationList·​count="0">684433 ······​<DisorderDisorderAsso​ciationList·​count="0">
684711 ······​</​DisorderDisorderAssoc​iationList>684434 ······​</​DisorderDisorderAssoc​iationList>
684712 ······​<SummaryInformationLi​st·​count="1">684435 ······​<SummaryInformationLi​st·​count="0">
684713 ········<SummaryInformation·id="-​1"·lang="en">
684714 ··········<TextSectionList·count="0">
684715 ··········</​TextSectionList>
684716 ··········<TextAuto>
684717 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
684718 ··········</​TextAuto>
684719 ········</​SummaryInformation>
684720 ······​</​SummaryInformationLis​t>684436 ······​</​SummaryInformationLis​t>
684721 ····​</​Disorder>684437 ····​</​Disorder>
684722 ····​<Disorder·​id="13675">684438 ····​<Disorder·​id="13675">
686731 ······​</​ExternalReferenceList​>686447 ······​</​ExternalReferenceList​>
686732 ······​<DisorderDisorderAsso​ciationList·​count="0">686448 ······​<DisorderDisorderAsso​ciationList·​count="0">
686733 ······​</​DisorderDisorderAssoc​iationList>686449 ······​</​DisorderDisorderAssoc​iationList>
686734 ······​<SummaryInformationLi​st·​count="1">686450 ······​<SummaryInformationLi​st·​count="0">
686735 ········<SummaryInformation·id="-​1"·lang="en">
686736 ··········<TextSectionList·count="0">
686737 ··········</​TextSectionList>
686738 ··········<TextAuto>
686739 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
686740 ··········</​TextAuto>
686741 ········</​SummaryInformation>
686742 ······​</​SummaryInformationLis​t>686451 ······​</​SummaryInformationLis​t>
686743 ····​</​Disorder>686452 ····​</​Disorder>
686744 ····​<Disorder·​id="29044">686453 ····​<Disorder·​id="29044">
697020 ··········​</​DisorderDisorderAssoc​iationType>696729 ··········​</​DisorderDisorderAssoc​iationType>
697021 ········​</​DisorderDisorderAssoc​iation>696730 ········​</​DisorderDisorderAssoc​iation>
697022 ······​</​DisorderDisorderAssoc​iationList>696731 ······​</​DisorderDisorderAssoc​iationList>
697023 ······​<SummaryInformationLi​st·​count="1">696732 ······​<SummaryInformationLi​st·​count="0">
697024 ········<SummaryInformation·id="-​1"·lang="en">
697025 ··········<TextSectionList·count="0">
697026 ··········</​TextSectionList>
697027 ··········<TextAuto>
697028 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
697029 ··········</​TextAuto>
697030 ········</​SummaryInformation>
697031 ······​</​SummaryInformationLis​t>696733 ······​</​SummaryInformationLis​t>
697032 ····​</​Disorder>696734 ····​</​Disorder>
697033 ····​<Disorder·​id="13503">696735 ····​<Disorder·​id="13503">
697273 ······​</​ExternalReferenceList​>696975 ······​</​ExternalReferenceList​>
697274 ······​<DisorderDisorderAsso​ciationList·​count="0">696976 ······​<DisorderDisorderAsso​ciationList·​count="0">
697275 ······​</​DisorderDisorderAssoc​iationList>696977 ······​</​DisorderDisorderAssoc​iationList>
697276 ······​<SummaryInformationLi​st·​count="1">696978 ······​<SummaryInformationLi​st·​count="0">
697277 ········<SummaryInformation·id="-​1"·lang="en">
697278 ··········<TextSectionList·count="0">
697279 ··········</​TextSectionList>
697280 ··········<TextAuto>
697281 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
697282 ··········</​TextAuto>
697283 ········</​SummaryInformation>
697284 ······​</​SummaryInformationLis​t>696979 ······​</​SummaryInformationLis​t>
697285 ····​</​Disorder>696980 ····​</​Disorder>
697286 ····​<Disorder·​id="13445">696981 ····​<Disorder·​id="13445">
703807 ······​</​ExternalReferenceList​>703502 ······​</​ExternalReferenceList​>
703808 ······​<DisorderDisorderAsso​ciationList·​count="0">703503 ······​<DisorderDisorderAsso​ciationList·​count="0">
703809 ······​</​DisorderDisorderAssoc​iationList>703504 ······​</​DisorderDisorderAssoc​iationList>
703810 ······​<SummaryInformationLi​st·​count="1">703505 ······​<SummaryInformationLi​st·​count="0">
703811 ········<SummaryInformation·id="-​1"·lang="en">
703812 ··········<TextSectionList·count="0">
703813 ··········</​TextSectionList>
703814 ··········<TextAuto>
703815 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
703816 ··········</​TextAuto>
703817 ········</​SummaryInformation>
703818 ······​</​SummaryInformationLis​t>703506 ······​</​SummaryInformationLis​t>
703819 ····​</​Disorder>703507 ····​</​Disorder>
703820 ····​<Disorder·​id="14950">703508 ····​<Disorder·​id="14950">
703852 ······​</​ExternalReferenceList​>703540 ······​</​ExternalReferenceList​>
703853 ······​<DisorderDisorderAsso​ciationList·​count="0">703541 ······​<DisorderDisorderAsso​ciationList·​count="0">
703854 ······​</​DisorderDisorderAssoc​iationList>703542 ······​</​DisorderDisorderAssoc​iationList>
703855 ······​<SummaryInformationLi​st·​count="1">703543 ······​<SummaryInformationLi​st·​count="0">
703856 ········<SummaryInformation·id="-​1"·lang="en">
703857 ··········<TextSectionList·count="0">
703858 ··········</​TextSectionList>
703859 ··········<TextAuto>
703860 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
703861 ··········</​TextAuto>
703862 ········</​SummaryInformation>
703863 ······​</​SummaryInformationLis​t>703544 ······​</​SummaryInformationLis​t>
703864 ····​</​Disorder>703545 ····​</​Disorder>
703865 ····​<Disorder·​id="14957">703546 ····​<Disorder·​id="14957">
712607 ······​</​ExternalReferenceList​>712288 ······​</​ExternalReferenceList​>
712608 ······​<DisorderDisorderAsso​ciationList·​count="0">712289 ······​<DisorderDisorderAsso​ciationList·​count="0">
712609 ······​</​DisorderDisorderAssoc​iationList>712290 ······​</​DisorderDisorderAssoc​iationList>
712610 ······​<SummaryInformationLi​st·​count="1">712291 ······​<SummaryInformationLi​st·​count="0">
712611 ········<SummaryInformation·id="-​1"·lang="en">
712612 ··········<TextSectionList·count="0">
712613 ··········</​TextSectionList>
712614 ··········<TextAuto>
712615 ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.​·To·learn·about·the·diseases·included·under·this·term,​·you·can·consult·the·classifications.​</​Info>
712616 ··········</​TextAuto>
712617 ········</​SummaryInformation>
712618 ······​</​SummaryInformationLis​t>712292 ······​</​SummaryInformationLis​t>
712619 ····​</​Disorder>712293 ····​</​Disorder>
712620 ····​<Disorder·​id="14663">712294 ····​<Disorder·​id="14663">
712649 ··········​</​DisorderDisorderAssoc​iationType>712323 ··········​</​DisorderDisorderAssoc​iationType>
712650 ········​</​DisorderDisorderAssoc​iation>712324 ········​</​DisorderDisorderAssoc​iation>
712651 ······​</​DisorderDisorderAssoc​iationList>712325 ······​</​DisorderDisorderAssoc​iationList>
712652 ······​<SummaryInformationLi​st·​count="1">712326 ······​<SummaryInformationLi​st·​count="0">
712653 ········<SummaryInformation·id="-​1"·lang="en">
712654 ··········<TextSectionList·count="0">
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